A-Z of Neurological Practice (eBook)

A-Z of Neurological Practice 3
Copyright Page 4
Preface to the Second Edition 5
A 7
Abetalipoproteinemia [OMIM#200100] 7
Clinical features 7
Investigation 8
Differential diagnosis 8
Treatment and prognosis 8
Abscess: overview 9
Acanthamoeba 10
Aceruloplasminemia [OMIM#604290] 11
Achondroplasia [OMIM#100800] 11
Acromegaly 12
Actinomycosis 12
Action myoclonus–renal failure syndrome (AMRF) [OMIM#254900] 13
Clinical features 13
Investigation 13
Differential diagnosis 13
Treatment and prognosis 14
Acute disseminated encephalomyelitis (ADEM) 14
Clinical features 14
Investigation 15
Differential diagnosis 15
Treatment and prognosis 16
Adrenoleukodystrophy (X-ALD) [OMIM#300100] 16
Clinical features 17
Investigation 17
Differential diagnosis 18
Treatment and prognosis 18
Albers–Schönberg disease 19
Alcohol and the nervous system: overview 19
Clinical features 19
Treatment and prognosis 21
Alexander’s disease [OMIM#203450] 22
Clinical features 22
Investigation 22
Differential diagnosis 22
Treatment and prognosis 23
Altitude illness 23
Clinical features 23
Treatment and prognosis 24
Alzheimer’s disease (AD) 24
Clinical features 25
Investigation 27
Differential diagnosis 28
Treatment and prognosis 28
Aminoacidopathies: overview 29
Investigation 30
Amoebic infection: overview 31
Amyloid diseases: overview 31
Andersen–Tawil syndrome [OMIM#170390] 32
Aneurysm: overview 32
Clinical features 33
Investigation 33
Treatment and prognosis 34
Angelman syndrome [OMIM#105830] 34
Clinical features 34
Investigation 35
Differential diagnosis 35
Treatment and prognosis 35
Angiostrongyliasis 35
Ankylosing spondylitis 36
Clinical features 36
Investigation 37
Differential diagnosis 37
Treatment and prognosis 37
Anterior choroidal artery infarction 38
Anterior interosseous neuropathy 38
Anterior spinal artery syndrome (ASAS) 39
Clinical features 40
Investigation 40
Treatment and prognosis 40
Anthrax 40
Clinical features 40
Investigation 41
Differential diagnosis 41
Treatment and prognosis 41
Antiphospholipid syndrome (APS) 41
Clinical features 42
Investigation 42
Differential diagnosis 42
Treatment and prognosis 43
Anton–Babinski syndrome 43
Arachnoid cyst 43
Clinical features 44
Investigation 44
Differential diagnosis 44
Treatment and prognosis 44
Arachnoiditis 44
Clinical features 45
Investigation 45
Differential diagnosis 46
Treatment and prognosis 46
Arbovirus disease: overview 46
Argyrophilic grain disease (AGD) 47
Arteriovenous malformations (AVMs) 47
Clinical features 47
Investigation 48
Differential diagnosis 48
Treatment and prognosis 48
Aseptic meningitis: overview 49
Aspergillosis 49
Astrocytoma 50
Ataxia telangiectasia (AT) [OMIM#208900] 50
Clinical features 51
Investigation 51
Differential diagnosis 52
Treatment and prognosis 52
Ataxia with isolated vitamin E deficiency (AVED) [OMIM#277460] 52
Ataxia with oculomotor apraxia (AOA) 53
Atlantoaxial dislocation, subluxation 54
Atypical facial pain 54
Atypical pneumonias: overview 54
Autonomic failure: overview 55
Clinical features 56
Investigation 56
Treatment and prognosis 57
Autosomal dominant cerebellar ataxia (ADCA): overview 58
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) [OMIM#600513, #605375] 59
Clinical features 60
Investigation 60
Differential diagnosis 60
Treatment and prognosis 60
B 61
Balò’s concentric sclerosis 61
Barth syndrome 61
Bartonellosis 62
Basal ganglia calcification: overview 62
Basedow’s paraplegia 63
Becker muscular dystrophy (BMD) [OMIM#300376] 64
Behçet’s disease 64
Clinical features 65
Investigation 65
Differential diagnosis 66
Treatment and prognosis 66
Diagnostic criteria 67
Reference 67
Behr syndrome 67
Bell’s palsy 68
Clinical features 68
Investigation 69
Differential diagnosis 69
Treatment and prognosis 69
Belly dancer’s dyskinesia 70
Benign epilepsy syndromes: overview 71
Benign hereditary chorea (BHC) [OMIM#118700] 71
Benign paroxysmal positional vertigo (BPPV) 72
Clinical features 72
Investigation 73
Differential diagnosis 73
Treatment and prognosis 73
Beriberi 74
Clinical features 74
Investigation 75
Differential diagnosis 75
Treatment and prognosis 75
Bethlem myopathy [OMIM#158810] 76
Bickerstaff’s brainstem encephalitis (BBE) 76
Clinical features 77
Investigation 77
Differential diagnosis 77
Treatment and prognosis 77
Bing–Neel syndrome 78
Binswanger’s disease 78
Clinical features 79
Investigation 79
Differential diagnosis 79
Treatment and prognosis 80
Blastomycosis 80
Blue rubber bleb naevus syndrome 80
Botulism 81
Clinical features 81
Investigation 82
Differential diagnosis 82
Treatment and prognosis 82
Boucher–Neuhauser syndrome 83
Brachial plexopathy: overview 83
Clinical features 84
Investigation 84
Differential diagnosis 85
Treatment and prognosis 85
Brain death 85
Clinical features 86
Investigation 87
Differential diagnosis 87
Treatment and prognosis 87
Brain stem vascular syndromes: overview 87
Brody disease [OMIM#601003] 90
Brown’s syndrome 91
Brown–Vialetto–van Laere syndrome 91
Burning mouth syndrome 92
C 93
CADASIL 93
Clinical features 93
Investigation 93
Differential diagnosis 94
Treatment and prognosis 94
Caisson disease 94
Camptocormia 95
Camptodactyly 95
Clinical features 95
Investigation 96
Differential diagnosis 96
Treatment and prognosis 96
Candidiasis 96
CANOMAD 96
Capsular warning syndrome 97
Carbon monoxide poisoning 97
Carnitine palmit(o)yltransferase (CPT) deficiency 98
Clinical features 99
Investigation 99
Differential diagnosis 99
Treatment and prognosis 99
Carotid artery disease: overview 100
Clinical features 100
Investigation 100
Differential diagnosis 101
Treatment and prognosis 101
Carotid-cavernous fistula (CCF) 101
Clinical features 102
Investigation 102
Differential diagnosis 102
Treatment and prognosis 102
Carpal tunnel syndrome (CTS) 102
Clinical features 103
Investigation 104
Differential diagnosis 104
Treatment and prognosis 104
Cauda equina syndrome and conus medullaris syndrome: overview 104
Clinical features 105
Investigation 105
Differential diagnosis 105
Treatment and prognosis 106
Cavernoma, cavernous hemagioma [OMIM#116860] 106
Cavernous sinus disease 107
Clinical features 107
Investigation 108
Differential diagnosis 108
Treatment and prognosis 108
Cayman disease 109
Central core disease [OMIM#117000] 109
Central pontine and extrapontine myelinolysis (CPEPM) 110
Clinical features 110
Investigation 111
Differential diagnosis 111
Treatment and prognosis 111
Cerebellar disease: overview 112
Clinical features 114
Investigation 115
Cerebellopontine angle syndrome 116
Cerebral amyloid angiopathy (CAA) 116
Clinical features 117
Investigation 117
Differential diagnosis 117
Treatment and prognosis 117
Cerebral palsy (CP) 118
Clinical features 118
Investigation 118
Differential diagnosis 119
Treatment and prognosis 120
Cerebral salt wasting (CSW) syndrome 120
Cerebrotendinous xanthomatosis (CTX) [OMIM#213700] 121
Clinical features 121
Investigation 122
Treatment and prognosis 122
Cervical cord and root disease: overview 122
Clinical features 123
Investigation 125
Differential diagnosis 125
Treatment and prognosis 125
Cervical dystonia 126
Clinical features 126
Investigation 126
Differential diagnosis 126
Treatment and prognosis 127
Channelopathies: overview 127
Charcot–Marie–Tooth (CMT) disease 128
Clinical features 130
Investigation 130
Differential diagnosis 130
Treatment and prognosis 131
Charlevoix–Saguenay syndrome [OMIM#270550] 131
Cheiralgia paresthetica 131
Cheiro-oral syndrome 132
Chemotherapy-induced neurological disorders 132
Clinical features 132
Investigation 133
Differential diagnosis 133
Treatment and prognosis 133
Chiari malformations 133
Clinical features 134
Investigation 134
Differential diagnosis 134
Treatment and prognosis 135
Cholesteatoma 135
Cholesterol embolization syndrome 136
Chordoma 136
Choriocarcinoma 137
Choroid plexus papilloma 137
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) 137
Clinical features 137
Investigation 138
Differential diagnosis 139
Treatment and prognosis 139
Chronic progressive external ophthalmoplegia (CPEO) 140
Clinical features 140
Investigation 140
Differential diagnosis 141
Treatment and prognosis 141
Chronic relapsing inflammatory optic neuropathy (CRION) 141
Churg–Strauss syndrome 142
Ciguatera 142
Cluster headache (CH) 143
Clinical features 143
Investigation 144
Differential diagnosis 144
Treatment and prognosis 144
Coarctation of the aorta 145
Cobb syndrome 146
Cocaine 146
Coccidioidomycosis 146
Coeliac disease 147
Coenurosis 148
Cogan syndrome (1) 148
Cogan syndrome (2) 149
Collagen vascular disorders and the nervous system: overview 149
Colloid cyst 150
Coma: overview 150
Clinical features 151
Investigation 151
Differential diagnosis 151
Treatment and prognosis 151
Common variable immunodeficiency (CVID) 152
Compartment syndromes 152
Complex regional pain syndromes 153
Sec144_3 153
Clinical features 153
Investigation 153
Differential diagnosis 153
Treatment and prognosis 153
Congenital cranial dysinnervation disorders (CCDDs): overview 154
Congenital insensitivity to pain 155
Congenital muscle and neuromuscular disorders: overview 155
Congenital muscular dystrophies: overview 156
Congenital myasthenic syndromes: overview 157
Investigation 157
Differential diagnosis 158
Treatment and prognosis 158
Copper deficiency-associated myeloneuropathy 158
Corticobasal degeneration (CBD) 159
Clinical features 159
Investigation 160
Differential diagnosis 160
Treatment and prognosis 160
Cough headache 161
Cramp fasciculation syndrome 162
Cranial polyneuropathy 162
Investigation 163
Craniopharyngioma 163
Clinical features 163
Investigation 164
Differential diagnosis 164
Treatment and prognosis 164
Creutzfeldt–Jakob disease (CJD) 164
Clinical features 164
Investigation 165
Differential diagnosis 166
Treatment and prognosis 166
Critical illness myopathy, critical illness polyneuropathy 166
Cryoglobulinemia, cryoglobulinemic neuropathy 167
Cryptococcosis 167
Clinical features 168
Investigation 168
Differential diagnosis 168
Treatment and prognosis 168
Cubital tunnel syndrome 169
Clinical features 169
Investigation 169
Treatment and prognosis 169
Cyanide poisoning 169
Cysts: overview 170
Investigations 170
Differential diagnosis 170
Treatment and prognosis 171
Cytomegalovirus (CMV) infection: overview 171
D 172
Dandy–Walker syndrome 172
Danon disease [OMIM#300257] 172
Dawidenkow syndrome 173
Deafferentation pain syndrome 173
Degos Disease 173
Déjerine–Mouzon syndrome 174
Déjerine–Roussy syndrome 174
Déjerine–Sottas syndrome (DSS) [OMIM#145900] 175
Delirium: overview 175
Clinical features 177
Investigation 177
Differential diagnosis 177
Treatment and prognosis 178
Dementia: overview 178
Clinical features 181
Investigation 181
Differential diagnosis 182
Treatment and prognosis 182
Dementia with Lewy bodies (DLB) 182
Clinical features 183
Investigation 183
Differential diagnosis 184
Treatment and prognosis 184
Dementia pugilistica 184
Demyelinating diseases of the nervous system: overview 185
Dengue 186
Dentatorubral-pallidoluysian atrophy (DRPLA) [OMIM#125370] 186
Clinical features 187
Investigation 187
Differential diagnosis 187
Treatment and prognosis 187
Dermatomyositis 188
Clinical features 188
Investigation 189
Differential diagnosis 190
Treatment and prognosis 190
Dermoid 190
Desmin-related myopathy [OMIM#601419] 191
Diabetes insipidus (DI) 191
Diabetes mellitus and the nervous system: overview 192
Clinical features 192
Investigation 194
Treatment and prognosis 194
Dialysis syndromes 195
Diaphragmatic flutter 196
Diastematomyelia 196
Diogenes syndrome 197
Diphtheria 197
Clinical features 198
Investigation 198
Differential diagnosis 199
Treatment and prognosis 199
Diphyllobothriasis 199
Discitis 199
Disconnection syndromes 200
Clinical features 200
Investigation 201
Treatment and prognosis 201
Dissection: overview 201
Clinical features 202
Investigation 202
Differential diagnosis 202
Treatment and prognosis 202
Distal myopathy: overview 203
Dolichoectasia 204
Dopamine-b-hydroxylase deficiency [OMIM#223360] 204
Dopa-responsive dystonia (DRD) [OMIM#128230] 205
Clinical features 205
Investigation 205
Differential diagnosis 205
Treatment and prognosis 206
Down syndrome [OMIM#190685] 206
Dracunculiasis 207
Drop attacks: overview 207
Investigation 209
Treatment and prognosis 209
Dropped head syndrome 209
Duane’s syndrome 210
Duchenne muscular dystrophy (DMD) [OMIM#310200] 210
Clinical features 211
Investigation 211
Differential diagnosis 211
Treatment and prognosis 211
Dural arteriovenous fistula (DAVF) 212
Clinical features 212
Investigation 212
Differential diagnosis 213
Treatment and prognosis 213
Dysembryoplastic neuroepithelial tumor (DNET) 213
Dysferlinopathy 214
Dystonia: overview 214
Investigation 219
Differential diagnosis 220
Treatment and prognosis 220
Treatment and prognosis 220
Dystrophinopathy 222
E 223
Eating disorders 223
Echinococcosis 224
Eclampsia 224
Clinical features 225
Investigation 225
Differential diagnosis 225
Treatment and prognosis 225
Ehlers–Danlos syndrome 226
Ehrlichiosis 226
Eighteen q deletion syndrome [OMIM#601808] 227
Electrical injuries and the nervous system 227
Elsberg syndrome 228
Emery–Dreifuss muscular dystrophy (EDMD) 229
Clinical features 229
Investigation 229
Differential diagnosis 230
Treatment and prognosis 230
Empty sella syndrome 230
Encephalitis: overview 231
Clinical features 232
Investigation 233
Differential diagnosis 233
Treatment and prognosis 234
Encephalitis lethargica 234
Encephalopathies: overview 235
Clinical features 236
Investigation 236
Differential diagnosis 236
Treatment and prognosis 236
Endocarditis: overview 237
Clinical features 237
Investigation 238
Differential diagnosis 238
Treatment and prognosis 238
Endocrine disorders and neurology: overview 239
Entrapment neuropathies: overview 241
Investigation 242
Differential diagnosis 242
Treatment and prognosis 242
Eosinophilic syndromes: overview 243
Ependymoma 244
Clinical features 244
Investigation 245
Differential diagnosis 245
Treatment and prognosis 245
Epidermoid 245
Epilepsy: overview 246
Clinical features 247
Investigation 247
Differential diagnosis 248
Treatment and prognosis 248
Episodic ataxias 249
Clinical features 249
Investigation 250
Differential diagnosis 250
Treatment and prognosis 250
Epstein–Barr virus (EBV) infection and the nervous system: overview 250
Erb’s palsy, Erb-Duchenne palsy 251
Erdheim-Chester disease 251
Essential tremor (ET) 252
Clinical features 252
Investigation 253
Differential diagnosis 253
Treatment and prognosis 253
Exploding head syndrome 254
F 255
Fabry’s disease [OMIM#301500] 255
Clinical features 255
Investigation 256
Differential diagnosis 257
Treatment and prognosis 257
Facial pain: overview 257
Clinical features 258
Investigation 258
Facioscapulohumeral (FSH) muscular dystrophy [OMIM#158900] 258
Clinical features 259
Investigation 259
Differential diagnosis 259
Treatment and prognosis 260
Fahr’s disease 260
Familial amyloid polyneuropathies (FAP) 261
Clinical features 261
Investigation 261
Differential diagnosis 262
Treatment and prognosis 262
Familial British dementia (FBD) [OMIM#176500] 262
Clinical features 262
Investigations 263
Differential diagnosis 263
Treatment and prognosis 263
Familial Danish dementia (FDD) [OMIM#117300] 263
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) [OMIM#604218] 264
Familial Mediterranean fever (FMF) [OMIM#249100] 264
Familial periventricular heterotopia [OMIM#300049] 265
Fat embolism syndrome (FES) 265
Fatal familial insomnia (FFI) [OMIM#600072] 266
Fatty acid oxidation disorders (FAOD): overview 266
Clinical features 267
Investigation 267
Differential diagnosis 267
Treatment and prognosis 268
Febrile seizures 268
Clinical features 268
Investigation 269
Differential diagnosis 269
Treatment and prognosis 269
Femoral neuropathy 269
Clinical features 269
Investigation 270
Differential diagnosis 270
Fibromuscular dysplasia (FMD) 270
Clinical features 270
Investigation 270
Differential diagnosis 271
Treatment and prognosis 271
Fibromyalgia syndrome (FMS) 271
Fibrous dysplasia 272
Filariasis 272
Focal retrograde amnesia 272
Foix–Alajouanine syndrome 272
Foix–Chavany–Marie syndrome 273
Foot drop: overview 273
Clinical features 274
Investigation 275
Differential diagnosis 275
Treatment and prognosis 275
Foramen magnum syndrome 275
Clinical features 276
Investigation 276
Treatment and prognosis 277
Fotopoulos syndrome 277
Fowler’s syndrome 277
Fragile X syndromes (FRAX, FRAXE) [OMIM#300624 #309548]
Friedreich’s ataxia (FA) [OMIM#229300] 279
Clinical features 280
Investigation 280
Differential diagnosis 281
Treatment and prognosis 281
Froin’s syndrome 282
Frontotemporal lobar degeneration (FTLD) 282
Clinical features 283
Investigation 283
Differential diagnosis 283
Treatment and prognosis 283
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) [OMIM#600274, #607485] 284
Fucosidosis [OMIM#230000] 285
G 287
Gait disorders: overview 287
Galloping tongue syndrome 289
Ganglioglioma 289
Gangliosidoses: overview 290
Clinical features 290
Investigation 291
Differential diagnosis 291
Treatment and prognosis 291
Garcin syndrome 292
Gardner’s syndrome 292
Gasperini’s syndrome 292
Gastrointestinal disease and the nervous system: overview 293
Clinical features 293
Treatment and prognosis 293
Gaucher’s disease 294
Clinical features 294
Investigation 295
Differential diagnosis 295
Treatment and prognosis 295
Gelastic epilepsy 296
Gelsolin amyloidosis [OMIM#105120] 296
Generalized epilepsy with febrile seizures plus (GEFS+) [OMIM#604233] 297
Geniculate neuralgia 297
Geniospasm 298
Genitofemoral neuropathy 298
Gerhardt syndrome 298
Germ cell tumors 298
Germinoma 299
Gerstmann syndrome 300
Gerstmann–Sträussler–Scheinker disease (GSS) [OMIM#137440] 300
Geschwind syndrome 300
Giant axonal neuropathy (GAN) [OMIM#256850] 301
Giant cell arteritis (GCA) 301
Clinical features 302
Investigation 302
Differential diagnosis 303
Treatment and prognosis 303
Glioma 304
Clinical features 304
Investigation 304
Differential diagnosis 305
Treatment and prognosis 305
Gliomatosis cerebri 306
Glomus jugulare tumor 306
Clinical features 306
Investigation 307
Differential diagnosis 307
Treatment and prognosis 307
Glossopharyngeal neuralgia 307
Glutaric acidurias 308
Clinical features 308
Investigation 309
Differential diagnosis 309
Treatment and prognosis 309
Glycogen storage disorders: overview 310
Gnathostomiasis 312
Godot syndrome 312
Godtfredsen’s syndrome 313
Gonyalgia paresthetica 313
Gourmand syndrome 313
Gradenigo’s syndrome 314
Grisel syndrome 314
Guam amyotrophic lateral sclerosis parkinsonism–dementia complex (ALS/PDC) 314
Guillain-Barré syndrome (GBS) 315
Clinical features 316
Investigation 317
Differential diagnosis 317
Treatment and prognosis 318
H 319
Hematoma: overview 319
Hemochromatosis 319
Harding’s syndrome 320
HARP syndrome [OMIM#607236] 320
Hashimoto’s encephalopathy 321
Headache: overview 321
Clinical features 322
Investigation 323
Treatment and prognosis 323
Heatstroke 323
Heavy metal poisoning: overview 324
Helminthic diseases: overview 325
Hemifacial spasm (HFS) 325
Clinical features 326
Investigation 326
Differential diagnosis 326
Treatment and prognosis 326
Hepatic encephalopathy 327
Portal-systemic encephalopathy 327
Clinical features 327
Investigation 327
Differential diagnosis 327
Treatment and prognosis 328
Hereditary fructose intolerance (HFI) [OMIM#229600] 328
Hereditary hemorrhagic telangiectasia (HHT) [OMIM#187300] 329
Familial telangiectasia, Osler–Weber–Rendu syndrome, Rendu–Osler–Weber syndrome 329
Hereditary motor and sensory neuropathy (HMSN) 329
Clinical features 330
Investigation 330
Differential diagnosis 330
Treatment and prognosis 330
Hereditary motor neuropathy (HMN) 331
Hereditary neuropathy with liability to pressure palsies (HNLPP) [OMIM#162500] 332
Hereditary sensory and autonomic neuropathy (HSAN) 332
Hereditary spastic paraplegia (HSP) 333
Clinical features 335
Investigation 336
Differential diagnosis 336
Treatment and prognosis 336
HERNS 336
Heroin 337
Herpes simplex encephalitis (HSE) 337
Clinical features 338
Investigation 338
Differential diagnosis 339
Treatment and prognosis 339
Herpes zoster and postherpetic neuralgia 340
Clinical features 340
Investigation 340
Differential diagnosis 341
Treatment and prognosis 341
Heterotopias 341
Histoplasmosis 342
HIV/AIDS: overview 342
Clinical features 342
Investigation 343
Differential diagnosis 343
Treatment and prognosis 344
Hoffman’s syndrome 344
Holmes–Adie syndrome 345
Homocystinuria [OMIM#236200] 345
Clinical features 345
Investigation 346
Differential diagnosis 346
Treatment and prognosis 346
Hopkins’ syndrome 347
HTLV-1 myelopathy 347
Clinical features 347
Investigation 347
Differential diagnosis 348
Treatment and prognosis 348
Huntington’s disease (HD) [OMIM#143100] 348
Clinical features 348
Investigation 349
Differential diagnosis 349
Treatment and prognosis 350
Hydrocephalus: overview 350
Clinical features 351
Investigation 351
Differential diagnosis 351
Treatment and prognosis 351
Hyperekplexia 352
Hypereosinophilic syndrome (HES) 352
Hyperostosis cranialis interna 353
Hypertension and the nervous system: overview 353
Clinical features 354
Investigation 354
Treatment and prognosis 354
Hypnic headache 355
Hypobetalipoproteinemia 355
Hypothalamic disease: overview 356
Clinical features 356
Investigation 356
Treatment and prognosis 356
I 357
Idiopathic hyperCKemia 357
Idiopathic hypersomnia 357
Idiopathic intracranial hypertension (IIH) 358
Clinical features 358
Investigation 359
Differential diagnosis 359
Treatment and prognosis 359
Ilioinguinal neuropathy 360
Imerslund–Gräsbeck syndrome 360
Inclusion body myositis (IBM) 361
Clinical features 361
Investigation 361
Differential diagnosis 361
Treatment and prognosis 362
Incontinentia pigmenti (achromians) 362
Intervertebral disc prolapse 363
Clinical features 363
Investigation 363
Differential diagnosis 364
Treatment and prognosis 364
Intracerebral hemorrhage (ICH) 364
Clinical features 365
Investigation 365
Differential diagnosis 365
Treatment and prognosis 366
Intravascular lymphoma 366
Clinical features 367
Investigation 367
Differential diagnosis 367
Treatment and prognosis 367
Ischemic optic neuropathy (ION) 368
Clinical features 368
Investigation 369
Differential diagnosis 369
Treatment and prognosis 369
J 370
Japanese encephalitis 370
Clinical features 370
Investigation 370
Differential diagnosis 371
Treatment and prognosis 371
Jeavons syndrome 371
Jugular foramen syndrome 372
Clinical features 372
Investigation 372
Differential diagnosis 373
Treatment and prognosis 373
Juvenile myoclonic epilepsy (JME) 374
Clinical features 374
Investigation 374
Treatment and prognosis 374
K 375
Kallmann’s syndrome 375
Kearns–Sayre syndrome (KSS) 375
Clinical features 376
Investigation 376
Differential diagnosis 376
Treatment and prognosis 376
Kernohan’s syndrome 377
Kjellin’s syndrome 377
Kleine–Levin syndrome 378
Klippel–Feil anomaly 378
Klippel–Trénaunay–Weber syndrome 379
Klumpke’s palsy 379
Klüver–Bucy syndrome 379
Konzo 380
Krabbe’s disease [OMIM#245200] 381
Clinical features 381
Investigation 381
Differential diagnosis 381
Treatment and prognosis 382
Kufor-Rakeb disease [OMIM#606693] 382
Kufs’ disease 382
Clinical features 383
Investigation 383
Differential diagnosis 383
Treatment and prognosis 383
Kugelberg–Welander disease 384
Kuru 384
L 385
l-2-Hydroxyglutaric acidemia [OMIM#236792] 385
Lactic acidosis: overview 385
Lacunar syndromes (LACS) 386
Lafora body disease [OMIM#254780] 387
Laing myopathy [OMIM#160500] 388
Lambert–Eaton myasthenic syndrome (LEMS) 388
Clinical features 388
Investigation 389
Differential diagnosis 389
Treatment and prognosis 389
Lance–Adams syndrome 390
Landau–Kleffner syndrome 390
Langerhans cell histiocytosis (LCH) 391
Clinical features 391
Investigation 391
Differential diagnosis 391
Treatment and prognosis 392
Lathyrism 392
Lead and the nervous system: Overview 392
Clinical features 392
Investigation 393
Differential diagnosis 393
Treatment and prognosis 393
Leber’s hereditary optic neuropathy (LHON) 393
Clinical features 394
Investigation 394
Differential diagnosis 394
Treatment and prognosis 394
Legionnaires’ disease 394
Clinical features 394
Investigation 395
Differential diagnosis 395
Treatment and prognosis 395
Leigh’s syndrome 395
Clinical features 396
Investigation 396
Differential diagnosis 396
Treatment and prognosis 397
Lemierre’s syndrome 397
Lemieux–Neemeh syndrome 397
Leprosy 397
Clinical features 398
Investigation 398
Differential diagnosis 398
Treatment and prognosis 399
Leptospirosis 399
Lesch-Nyhan disease 399
Clinical features 400
Investigation 400
Differential diagnosis 400
Treatment and prognosis 400
Leucoencephalopathy with neuroaxonal spheroids (LENAS) 400
Leukodystrophies: overview 401
Differential diagnosis 401
Lewis Sumner syndrome 402
Lhermitte–Duclos disease 402
Li–Fraumeni syndrome (LFS) [OMIM#161523] 403
Limb-girdle muscular dystrophies (LGMD): overview 403
Clinical features 406
Investigation 406
Differential diagnosis 406
Treatment and prognosis 406
Limbic encephalitis 406
Limb shaking 407
Locked-in syndrome 407
Clinical history 408
Investigation 408
Differential diagnosis 408
Treatment and prognosis 408
Long QT syndromes (LQTS) 409
Clinical features 410
Investigation 410
Differential diagnosis 410
Treatment and prognosis 410
Long thoracic nerve palsy 410
Low back pain: overview 411
Clinical features 411
Investigation 412
Differential diagnosis 412
Treatment and prognosis 412
Luft disease 413
Lumbar cord and root disease: overview 413
Clinical features 413
Investigation 414
Differential diagnosis 414
Treatment and prognosis 414
Lumbosacral plexopathies 415
Clinical features 415
Investigation 415
Differential diagnosis 416
Treatment and prognosis 416
Lymphocytic hypophysitis 416
Clinical features 416
Investigation 416
Differential diagnosis 417
Treatment and prognosis 417
Lymphoma 417
Clinical features 417
Investigation 418
Differential diagnosis 418
Treatment and prognosis 418
Lysosomal storage disorders: overview 419
M 421
Machado–Joseph disease (MJD) [OMIM#109150] 421
Malaria 421
Clinical features 422
Investigation 422
Differential diagnosis 422
Treatment and prognosis 422
Malignant hyperthermia [OMIM#145600] 423
Clinical features 423
Investigation 423
Differential diagnosis 424
Treatment and prognosis 424
Malingering 424
Manganese poisoning, manganism 424
Marburg disease 425
Marchiafava–Bignami syndrome 425
Marfan syndrome [OMIM#154700] 426
Clinical features 426
Investigation 426
Differential diagnosis 426
Treatment and prognosis 427
Marin-Amat syndrome 427
MASA syndrome [OMIM#303350] 427
Mast syndrome [OMIM#248900] 428
McArdle’s disease [OMIM#232600] 428
Clinical features 428
Investigation 429
Differential diagnosis 429
Treatment and prognosis 429
McLeod’s syndrome 429
Median neuropathy 430
Clinical features 430
Investigation 430
Differential diagnosis 431
Treatment and prognosis 431
Medication-overuse headache 431
Medulloblastoma 431
Meige’s syndrome 432
Clinical features 432
Investigation 432
Differential diagnosis 432
Treatment and prognosis 433
Melanoma 433
MELAS syndrome 433
Clinical features 433
Investigation 434
Differential diagnosis 434
Treatment and prognosis 434
Melioidosis 435
Melkersson–Rosenthal syndrome 435
Meningeal carcinomatosis 435
Clinical features 436
Investigation 436
Differential diagnosis 436
Treatment and prognosis 436
Meningioma 436
Meningitis: overview 437
Clinical features 438
Investigation 438
Differential diagnosis 438
Treatment and prognosis 439
Meningococcal disease 439
Clinical features 439
Investigation 440
Differential diagnosis 440
Treatment and prognosis 440
Meralgia paresthetica 441
Clinical features 441
Investigation 441
Differential diagnosis 441
Treatment and prognosis 441
MERRF syndrome 442
Clinical features 442
Investigation 442
Differential diagnosis 442
Treatment and prognosis 442
Metabolic storage disorders: overview 443
Metachromatic leukodystrophy (MLD) 443
Clinical features 444
Investigation 444
Differential diagnosis 445
Treatment and prognosis 445
Metastatic disease and the nervous system: overview 445
Clinical features 446
Investigation 446
Differential diagnosis 446
Treatment and prognosis 446
Methanol poisoning 446
Migraine 447
Clinical features 447
Investigation 448
Differential diagnosis 448
Treatment and prognosis 449
Migralepsy 449
Mild cognitive impairment (MCI) 450
Clinical features 450
Investigation 450
Differential diagnosis 450
Treatment and prognosis 450
Miller Fisher syndrome (MFS) 451
Clinical features 451
Investigation 451
Differential diagnosis 451
Treatment and prognosis 452
Mills’ syndrome, Mills’ variant 452
Mitochondrial disease: overview 452
Clinical features 453
Investigation 454
Differential diagnosis 454
Treatment and prognosis 454
Mixed connective tissue disease (MCTD) 455
Miyoshi myopathy [OMIM#254130] 455
MNGIE syndrome 456
Möbius syndrome 457
Mohr–Tranebjaerg syndrome [OMIM#304700] 457
Mollaret meningitis 458
Monoclonal gammopathies 458
Monomelic amyotrophy 459
Mononeuritis multiplex: overview 459
Morton’s metatarsalgia 460
Morvan’s syndrome 460
Motor neurone disease (MND) 461
Clinical features 461
Investigation 462
Differential diagnosis 462
Treatment and prognosis 463
Motor neurone diseases: overview 463
Moyamoya 464
Mucormycosis 465
Multifocal motor neuropathy (MMN) 465
Clinical features 466
Investigation 466
Differential diagnosis 466
Treatment and prognosis 467
Multi-minicore disease 467
Multiple sclerosis (MS) 467
Clinical features 468
Investigation 468
Differential diagnosis 469
Treatment and prognosis 469
Multiple symmetric lipomatosis 470
Multiple system atrophy (MSA) 470
Clinical features 471
Investigation 471
Differential diagnosis 472
Treatment and prognosis 472
Muscular dystrophies: overview 472
Investigation 473
Musculocutaneous neuropathy 473
Clinical features 474
Investigation 474
Differential diagnosis 474
Myasthenia gravis (MG) 474
Clinical features 474
Investigation 475
Differential diagnosis 476
Treatment and prognosis 476
Mycoplasma 478
Clinical features 478
Investigation 478
Differential diagnosis 478
Treatment and prognosis 478
Myelopathy: overview 479
Clinical features 480
Investigation 480
Myoadenylate deaminase deficiency (MADD) 481
Myoclonus-dystonia syndrome (MDS) 481
Myopathy: overview 482
Clinical features 482
Investigation 482
Differential diagnosis 482
Myositis: overview 483
Myositis ossificans [OMIM#135100] 484
Myotonia congenita 484
Clinical features 484
Investigation 485
Differential diagnosis 485
Treatment and prognosis 485
Myotonic dystrophy type 1 (DM1) [OMIM#160900] 485
Clinical features 486
Investigation 486
Differential diagnosis 487
Treatment and prognosis 487
Myotonic dystrophy type 2 (DM2) [OMIM#602668] 487
Clinical features 488
Investigation 488
Differential diagnosis 488
Treatment and prognosis 488
Myotonic syndromes: overview 488
Investigation 489
Differential diagnosis 489
Myotubular/Centronuclear myopathies 490
N 491
Naegleria 491
Nevoid basal cell carcinoma syndrome 491
Narcolepsy 492
Clinical features 492
Investigation 493
Differential diagnosis 493
Treatment and prognosis 493
NARP syndrome 494
Nasu-Hakola disease 494
Nathalie syndrome 495
Neck-tongue syndrome 495
Necrotizing myelopathy 495
Nemaline myopathy 496
Clinical features 496
Investigation 496
Differential diagnosis 496
Treatment and prognosis 496
Neuralgic amyotrophy 497
Clinical features 497
Investigation 497
Differential diagnosis 498
Treatment and prognosis 498
Neuroacanthocytosis 498
Clinical features 499
Investigation 499
Differential diagnosis 500
Treatment and prognosis 500
Neuroblastoma 500
Neuroborreliosis 501
Clinical features 501
Investigation 502
Differential diagnosis 502
Treatment and prognosis 502
Neurobrucellosis 503
Clinical features 503
Investigation 503
Differential diagnosis 504
Treatment and prognosis 504
Neurocutaneous syndromes 504
Neurocysticercosis 505
Clinical features 506
Investigation 506
Differential diagnosis 506
Treatment and prognosis 506
Neurodegeneration with brain iron accumulation (NBIA) 507
Clinical features 507
Investigation 507
Differential diagnosis 507
Treatment and prognosis 507
Neuroferritinopathy 508
Neurofibromatosis (NF) 508
Clinical features 509
Investigation 509
Differential diagnosis 510
Treatment and prognosis 510
Neuroleptic malignant syndrome (NMS) 510
Clinical features 511
Investigation 511
Differential diagnosis 511
Treatment and prognosis 511
Neuromuscular junction (NMJ) diseases: overview 512
Neuromyelitis optica (NMO) 512
Clinical features 512
Investigation 513
Differential diagnosis 513
Treatment and prognosis 513
Neuronal ceroid lipofuscinosis (NCL): overview 514
Neuropathies: overview 514
Clinical features 517
Investigation 517
Differential diagnosis 518
Treatment and prognosis 518
Neurosarcoidosis 519
Clinical features 519
Investigation 520
Differential diagnosis 521
Treatment and prognosis 521
Neurosyphilis 522
Clinical features 522
Investigation 522
Differential diagnosis 523
Treatment and prognosis 523
Neurovascular compression syndromes: overview 523
Niemann–Pick disease (NPD) type C [OMIM#257220] 524
Clinical features 524
Investigation 524
Differential diagnosis 525
Treatment and prognosis 525
NIFID 525
NMDA-receptor encephalitis 525
Clinical features 526
Investigation 526
Differential diagnosis 526
Treatment and prognosis 526
Nocardiosis 526
Nonaka myopathy [OMIM#605820] 527
Non-epileptic attack disorder (NEAD) 527
Clinical features 527
Investigation 528
Differential diagnosis 528
Treatment and prognosis 528
Non-Wilsonian hepatocerebral degeneration (NWHCD) 529
Normal pressure hydrocephalus (NPH) 529
Clinical features 530
Investigation 530
Differential diagnosis 531
Treatment and prognosis 531
Notalgia paresthetica 531
“Numb and clumsy hands” syndrome 532
Numb cheek syndrome, Numb chin syndrome 532
O 533
Obsessional slowness 533
Obstructive sleep apnea-hypopnea syndrome (OSAHS) 533
Clinical features 534
Investigation 534
Differential diagnosis 534
Treatment and prognosis 535
Obturator neuropathy 535
Clinical features 535
Investigation 536
Differential diagnosis 536
Occipital neuralgia 536
Oculopharyngeal muscular dystrophy (OPMD) 536
Clinical features 537
Investigation 537
Differential diagnosis 537
Treatment and prognosis 537
Oligodendroglioma 537
Ophthalmoplegic migraine 538
Optic neuritis 538
Clinical features 538
Investigation 539
Differential diagnosis 539
Treatment and prognosis 539
Orbital apex syndrome 540
Superior orbital fissure syndrome 540
Orbital tumors: overview 540
Clinical features 540
Investigation 541
Differential diagnosis 541
Treatment and prognosis 541
Ornithine transcarbamoylase (OTC) deficiency 541
Oromandibular dystonia 542
Lingual dystonia 542
Ortner syndrome 542
Cardiovocal syndrome 542
Ossification of the posterior longitudinal ligament (OPLL) 542
Clinical features 542
Investigation 542
Differential diagnosis 543
Treatment and prognosis 543
Osteogenesis imperfecta 543
Osteomalacia 544
O’Sullivan–McLeod syndrome 544
Overlap syndrome 544
P 545
Paget’s disease 545
Clinical features 545
Investigation 545
Differential diagnosis 546
Treatment and prognosis 546
Painful legs and moving toes (PLMT) 546
Clinical features 546
Investigation 547
Differential diagnosis 547
Treatment and prognosis 547
Pallido-pyramidal syndrome 547
Pancoast syndrome 548
Clinical features 548
Investigation 548
Differential diagnosis 548
Treatment and prognosis 548
Paragonimiasis 549
Paraneoplastic syndromes: overview 549
Clinical features 550
Investigation 550
Differential diagnosis 551
Treatment and prognosis 552
Paraproteinemic demyelinating neuropathy (PDN) 552
Clinical features 552
Investigation 553
Differential diagnosis 553
Treatment and prognosis 553
Parasomnias 554
Clinical features 554
Investigation 554
Differential diagnosis 554
Treatment and prognosis 555
Parkinsonian syndromes, parkinsonism 555
Clinical features 555
Investigation 556
Differential diagnosis 556
Treatment and prognosis 556
Parkinson’s disease (PD) 557
Clinical features 557
Investigation 559
Differential diagnosis 559
Treatment and prognosis 559
Parkinson’s syndrome 561
Paroxysmal dyskinesias 561
Clinical features 561
Investigation 562
Differential diagnosis 562
Treatment and prognosis 563
Paroxysmal hemicrania 563
Parry-Romberg syndrome 564
Clinical features 564
Investigation 564
Differential diagnosis 564
Treatment and prognosis 564
Patent foramen ovale (PFO) 565
Pavor nocturnus 565
Payne syndrome 566
Pelizaeus-Merzbacher disease (PMD) [OMIM#312080] 566
Clinical features 566
Investigation 567
Differential diagnosis 567
Treatment and prognosis 567
Pellagra 567
Clinical features 568
Investigation 568
Differential diagnosis 568
Treatment and prognosis 568
Periodic paralysis (PP) 569
Clinical features 569
Investigation 569
Differential diagnosis 570
Treatment and prognosis 570
Peripheral nerve hyperexcitability (PNH) 570
Clinical features 571
Investigation 571
Differential diagnosis 571
Treatment and prognosis 572
Peroneal neuropathy 572
Clinical features 572
Investigation 573
Differential diagnosis 573
Pick’s disease 573
Pineal gland tumors 573
Piriformis syndrome 574
Clinical features 574
Investigation 574
Differential diagnosis 575
Treatment and prognosis 575
Pisa syndrome 575
Pituitary disease: overview 575
Clinical features 576
Investigation 577
Differential diagnosis 577
Treatment and prognosis 577
POEMS syndrome 577
Clinical features 578
Investigation 578
Differential diagnosis 578
Treatment and prognosis 578
Poliomyelitis 579
Clinical features 579
Investigation 580
Differential diagnosis 580
Treatment and prognosis 580
Polyarteritis nodosa (PAN) 580
Clinical features 581
Investigation 581
Differential diagnosis 581
Treatment and prognosis 581
Polycythemia rubra vera (PRV) 582
Polyglucosan body disease (PGB) 582
Clinical features 582
Investigation 582
Differential diagnosis 583
Treatment and prognosis 583
Polymyalgia rheumatica (PMR) 583
Clinical features 583
Investigation 584
Differential diagnosis 584
Treatment and prognosis 584
Polymyositis 585
Clinical features 585
Investigation 585
Differential diagnosis 585
Treatment and prognosis 586
Pompe’s disease [OMIM#232300] 586
Clinical features 587
Investigation 587
Differential diagnosis 587
Treatment and prognosis 588
Porphyria 588
Clinical features 588
Investigation 589
Differential diagnosis 589
Treatment and prognosis 590
Posterior cortical atrophy (PCA) 590
Posterior interosseous syndrome 591
Posterior reversible leukoencephalopathy syndrome (PRES) 591
Clinical features 592
Investigation 592
Differential diagnosis 592
Treatment and prognosis 592
Posthypoxic syndromes 592
Clinical features 593
Investigation 593
Differential diagnosis 593
Treatment and prognosis 593
Postpolio syndrome 593
Investigation 594
Treatment and prognosis 594
Potassium-aggravated myotonia (PAM) [OMIM#608390] 594
Clinical features 594
Investigation 595
Differential diagnosis 595
Treatment and prognosis 595
Pregnancy and the nervous system: overview 595
Primary angiitis of the central nervous system (PACNS) 597
Clinical features 597
Investigation 597
Differential diagnosis 598
Treatment and prognosis 598
Primary headache associated with sexual activity (PHSA) 599
Differential diagnosis and investigation 599
Treatment and prognosis 599
Primary lateral sclerosis (PLS) 600
Clinical features 600
Investigation 600
Differential diagnosis 600
Treatment and prognosis 601
Primary orthostatic tremor (POT) 601
Clinical features 601
Investigation 601
Differential diagnosis 602
Treatment and prognosis 602
Primary systemic amyloidosis 602
Prion disease: overview 603
Clinical features 603
Investigation 603
Differential diagnosis 604
Treatment and prognosis 604
Progeria [OMIM#176670] 604
Progressive ataxia and palatal tremor (PAPT) 605
Progressive encephalomyelitis with rigidity and myoclonus (PERM) 605
Progressive multifocal leukoencephalopathy (PML) 606
Clinical features 606
Investigation 606
Differential diagnosis 607
Treatment and prognosis 607
Progressive myoclonus epilepsies (PME) 607
Progressive non-fluent aphasia (PNFA) 608
Clinical features 609
Investigation 609
Differential diagnosis 609
Treatment and prognosis 609
Progressive subcortical gliosis of Neumann (PSG) 610
Clinical features 610
Investigation 610
Differential diagnosis 610
Treatment and prognosis 610
Progressive supranuclear palsy (PSP) 611
Clinical features 611
Investigation 611
Differential diagnosis 612
Treatment and prognosis 612
Pronator teres syndrome 613
Clinical features 613
Pseudomigraine 613
Pseudoxanthoma elasticum (PXE) 614
Clinical features 614
Investigation 614
Treatment and prognosis 614
Psittacosis 615
Psychiatric disorders and neurological disease: overview 615
Clinical features 615
Investigation 616
Differential diagnosis 616
Treatment and prognosis 616
Pure autonomic failure (PAF) 617
Clinical features 617
Investigation 617
Differential diagnosis 618
Treatment and prognosis 618
Q 619
Q fever 619
Quail myopathy 620
R 621
Rabies 621
Clinical features 621
Investigation 621
Differential diagnosis 622
Treatment and prognosis 622
Radial neuropathy 622
Clinical features 623
Investigation 623
Differential diagnosis 623
Radiculopathies: overview 623
Clinical features 623
Investigation 624
Differential diagnosis 624
Treatment and prognosis 624
Radiotherapy-induced neurological disorders 624
Clinical features 624
Investigation 625
Differential diagnosis 625
Treatment and prognosis 625
Raeder’s paratrigeminal syndrome 625
Clinical features 626
Investigation 626
Differential diagnosis 626
Treatment and prognosis 626
Ramsay Hunt syndromes 627
Rasmussen’s encephalitis (RE), Rasmussen’s syndrome 627
Clinical features 627
Investigation 628
Differential diagnosis 628
Treatment and prognosis 628
Rapid-onset dystonia parkinsonism [OMIM#128235] 628
Reflex epilepsies 629
Refsum’s disease 629
Clinical features 630
Investigation 630
Differential diagnosis 630
Treatment and prognosis 630
Relapsing polychondritis 631
REM sleep behavior disorder (REMBD) 631
Renal disease and the nervous system: overview 632
Clinical features 632
Investigation 633
Differential diagnosis 634
Treatment and prognosis 634
Respiratory failure: overview 634
Clinical features 634
Investigation 635
Differential diagnosis 635
Treatment and prognosis 635
Restless legs syndrome (RLS) 636
Clinical features 636
Investigation 636
Differential diagnosis 636
Treatment and prognosis 637
Reversible cerebral vasoconstriction syndromes (RCVS) 637
Clinical features 638
Investigation 638
Differential diagnosis 638
Treatment and prognosis 638
Rhabdomyolysis 639
Clinical features 639
Investigation 639
Differential diagnosis 640
Treatment and prognosis 640
Rheumatoid arthritis 640
Clinical features 640
Investigation 641
Differential diagnosis 641
Treatment and prognosis 641
Rickettsial disease 642
Clinical features 642
Investigation 642
Differential diagnosis 642
Treatment and prognosis 642
Rigid spine syndrome [OMIM#602771] 643
Riley–Day syndrome [OMIM#223900] 643
Investigation 644
Differential diagnosis 644
Treatment and prognosis 644
Rippling muscle disease (RMD) [OMIM#606072] 644
Rosai–Dorfman disease 645
Clinical features 645
Investigation 645
Differential diagnosis 646
Treatment and prognosis 646
Ross syndrome 646
Roussy–Lévy syndrome [OMIM#180800] 647
Clinical features 647
Investigation 647
Differential diagnosis 647
Treatment and prognosis 647
Rubella 648
“Rucksack paralysis” 648
S 649
Sandhoff’s disease [OMIM#268800] 649
Saphenous neuropathy 649
Sarcoglycanopathy 650
Satoyoshi syndrome 650
Scapuloperoneal syndrome 651
Scheuermann’s disease 651
Schilder’s disease 651
Clinical features 652
Investigation 652
Differential diagnosis 652
Treatment and prognosis 653
Schistosomiasis 653
Clinical features 653
Investigation 654
Differential diagnosis 654
Treatment and prognosis 654
Schnitzler’s syndrome 654
Schwartz–Jampel syndrome [OMIM#255800] 654
Clinical features 655
Investigation 655
Differential diagnosis 655
Treatment and prognosis 655
Sciatic neuropathy 655
Clinical features 656
Investigation 656
Differential diagnosis 656
Sciatica 656
Clinical features 657
Investigation 657
Differential diagnosis 657
Treatment and prognosis 657
Scoliosis: overview 658
Semantic dementia (SD) 658
Clinical features 659
Investigation 659
Differential diagnosis 659
Treatment and prognosis 659
Sengers syndrome 660
Septo-optic dysplasia 660
Serotonin syndrome 660
Shapiro syndrome 661
Shoulder–hand syndrome 661
Sialidosis 661
Clinical features 662
Investigation 662
Differential diagnosis 662
Treatment and prognosis 663
Sickle-cell disease 663
Silver syndrome [OMIM#270685] 663
Sjögren’s syndrome 663
Clinical features 664
Investigation 664
Differential diagnosis 665
Treatment and prognosis 665
Sleep apnea syndromes: overview 665
Sleep disorders: overview 666
Sneddon’s syndrome 667
Clinical features 667
Investigation 667
Differential diagnosis 667
Treatment and prognosis 667
Solvent exposure 668
Somatoform disorders 668
Sparganosis 670
Spasmodic dysphonia 670
Spinal and bulbar muscular atrophy (SBMA) [OMIM#313200] 670
Clinical features 671
Investigation 671
Differential diagnosis 671
Treatment and prognosis 671
Spina bifida 672
Clinical features 672
Investigation 672
Differential diagnosis 673
Treatment and prognosis 673
Spinal cord disease: overview 673
Investigation 674
Differential diagnosis 674
Spinal cord vascular diseases 674
Clinical features 674
Investigation 675
Differential diagnosis 675
Treatment and prognosis 675
Spinal muscular atrophy (SMA) 676
Clinical features 677
Investigation 677
Differential diagnosis 677
Treatment and prognosis 677
Spinal stenosis 678
Clinical features 678
Investigation 678
Differential diagnosis 679
Treatment and prognosis 679
Spinocerebellar ataxia (SCA) 679
Differential diagnosis 682
Spontaneous intracranial hypotension (SIH) 682
Clinical features 682
Investigation 682
Differential diagnosis 683
Treatment and prognosis 683
Spontaneous periodic hypothermia 683
Startle syndromes: overview 683
Clinical features 684
Investigation 684
Differential diagnosis 684
Treatment and prognosis 684
Status epilepticus 685
Clinical features 685
Investigation 685
Differential diagnosis 685
Treatment and prognosis 685
Stiffness: overview 686
Clinical features 687
Investigation 687
Differential diagnosis 688
Treatment and prognosis 688
Stroke: overview 688
Clinical features 689
Investigation 691
Differential diagnosis 691
Treatment and prognosis 691
Strongyloidiasis 692
Clinical features 692
Investigation 692
Differential diagnosis 693
Treatment and prognosis 693
Strychnine poisoning 693
Clinical features 693
Differential diagnosis 693
Treatment and prognosis 694
Sturge–Weber syndrome 694
Clinical features 694
Investigation 695
Differential diagnosis 695
Treatment and prognosis 695
Subacute combined degeneration of the spinal cord (SACDOC) 695
Subacute motor neuronopathy 696
Subacute myelo-optic neuropathy (SMON) 697
Subacute sclerosing panencephalitis (SSPE) 697
Clinical features 697
Investigation 698
Differential diagnosis 698
Treatment and prognosis 698
Subarachnoid hemorrhage (SAH) 698
Clinical features 699
Investigation 699
Differential diagnosis 700
Treatment and prognosis 700
Subclavian steal syndrome 701
Subdural empyema 702
Clinical features 702
Investigation 702
Differential diagnosis 702
Treatment and prognosis 702
Subdural hematoma (SDH) 703
Clinical features 703
Investigation 703
Differential diagnosis 704
Treatment and prognosis 704
Subependymal giant-cell astrocytoma (SEGA) 704
Sudden unexplained death in epilepsy (SUDEP) 705
SUNCT syndrome, SUNA syndrome 705
Clinical features 705
Investigation 706
Differential diagnosis 706
Treatment and prognosis 706
Superficial siderosis of the central nervous system 706
Clinical features 706
Investigation 707
Differential diagnosis 707
Treatment and prognosis 707
Superior oblique myokymia 707
Susac syndrome 708
Clinical features 708
Investigation 708
Differential diagnosis 708
Treatment and prognosis 708
Sweet’s syndrome 709
Sydenham’s chorea 709
Clinical features 710
Investigation 710
Differential diagnosis 710
Treatment and prognosis 710
Syncope 711
Clinical features 711
Investigation 712
Differential diagnosis 712
Treatment and prognosis 712
Syndrome of inappropriate ADH secretion (SIADH) 713
Clinical features 713
Investigation 713
Differential diagnosis 714
Treatment and prognosis 714
Synucleinopathy 714
Syringomyelia and syringobulbia 715
Clinical features 715
Investigation 716
Differential diagnosis 716
Treatment and prognosis 716
Systemic lupus erythematosus (SLE) 716
Clinical features 717
Investigation 717
Differential diagnosis 718
Treatment and prognosis 718
Systemic sclerosis 718
Clinical features 719
Investigation 719
Differential diagnosis 719
Treatment and prognosis 719
T 720
Takayasu’s arteritis 720
Clinical features 720
Investigation 720
Differential diagnosis 720
Treatment and prognosis 721
Tangier disease [OMIM#205400] 721
Clinical features 721
Investigation 721
Differential diagnosis 722
Treatment and prognosis 722
Tarlov cyst 722
Tauopathy 723
Tay–Sachs disease [OMIM#272800] 723
Clinical features 724
Investigation 724
Differential diagnosis 724
Treatment and prognosis 725
Teratoma 725
Tetanus 725
Clinical features 725
Sec21_20 726
Investigation 726
Differential diagnosis 726
Treatment and prognosis 726
Tethered cord syndrome 726
Clinical features 726
Investigation 727
Differential diagnosis 727
Treatment and prognosis 727
Thalamic syndromes: overview 727
Clinical features 727
Investigation 728
Differential diagnosis 728
Treatment and prognosis 728
Thoracic outlet syndromes (TOS) 728
Clinical features 729
Investigation 729
Differential diagnosis 729
Treatment and prognosis 729
Thunderclap headache 730
Clinical features 730
Investigation 730
Differential diagnosis 730
Treatment and prognosis 731
Thyroid disease and the nervous system: overview 731
Clinical features 731
Investigation 732
Differential diagnosis 732
Treatment and prognosis 732
Tibial muscular dystrophy [OMIM#600334] 733
Tibial neuropathy 733
Clinical features 733
Investigation 734
Differential diagnosis 734
Tolosa–Hunt syndrome 734
Top of the basilar syndrome 735
Clinical features 735
Investigation 736
Differential diagnosis 736
Treatment and prognosis 736
Tourette syndrome (TS) 736
Clinical features 737
Investigation 737
Differential diagnosis 737
Treatment and prognosis 737
Toxocariasis 738
Toxoplasmosis 738
Clinical features 738
Investigation 738
Differential diagnosis 739
Treatment and prognosis 739
Transient epileptic amnesia (TEA) 739
Clinical features 739
Investigation 739
Differential diagnosis 740
Treatment and prognosis 740
Transient global amnesia (TGA) 740
Clinical features 740
Investigation 740
Differential diagnosis 741
Treatment and prognosis 741
Transient ischemic attack (TIA) 741
Clinical features 742
Investigation 742
Differential diagnosis 743
Treatment and prognosis 743
Transient unresponsiveness of the elderly 744
Transverse myelitis 744
Clinical features 745
Investigation 745
Differential diagnosis 745
Treatment and prognosis 745
Traumatic brain injury (TBI) 746
Clinical features 746
Investigation 746
Differential diagnosis 747
Treatment and prognosis 747
Tremor: overview 748
Clinical features 748
Investigation 749
Differential diagnosis 749
Treatment and prognosis 749
Trichinosis 750
Clinical features 750
Investigation 750
Differential diagnosis 751
Treatment and prognosis 751
Trigeminal autonomic cephalalagias (TACS): overview 751
Trigeminal neuralgia (TN) 752
Clinical features 752
Investigation 752
Differential diagnosis 753
Treatment and prognosis 753
Trigeminal sensory neuropathy (TSN) 753
Trinucleotide repeat diseases: overview 754
Investigation 756
Treatment and prognosis 756
Troyer syndrome 756
Trypanosomiasis 757
Clinical features 757
Investigation 758
Differential diagnosis 758
Treatment and prognosis 758
Tuberculosis (TB) and the nervous system: overview 758
Clinical features 759
Investigation 759
Differential diagnosis 759
Treatment and prognosis 759
Tuberculous meningitis (TBM) 760
Clinical features 760
Investigation 761
Differential diagnosis 761
Treatment and prognosis 761
Tuberous sclerosis [OMIM#191100, #613254] 762
Clinical features 762
Investigation 763
Differential diagnosis 763
Treatment and prognosis 763
Tumors: overview 763
Clinical features 764
Investigation 765
Differential diagnosis 765
Treatment and prognosis 765
Typhus 766
Clinical features 766
Investigation 766
Differential diagnosis 767
Treatment and prognosis 767
U 768
Ullrich’s congenital muscular dystrophy [OMIM#254090] 768
Ulnar neuropathy 768
Clinical features 769
Investigation 769
Differential diagnosis 769
Treatment and prognosis 770
Unverricht–Lundborg disease [OMIM#254800] 770
Clinical features 770
Investigation 770
Differential diagnosis 771
Treatment and prognosis 771
Urbach–Wiethe disease [OMIM#247100] 771
Urea cycle enzyme defects (UCED): overview 772
Clinical features 773
Investigation 773
Differential diagnosis 773
Treatment and prognosis 774
Usher’s syndromes 774
V 775
Van Buchem’s syndrome 775
Vanishing white matter disease (VWMD) [OMIM#603896] 775
Variant Creutzfeldt–Jakob disease (vCJD) 776
Clinical features 776
Investigation 776
Differential diagnosis 777
Treatment and prognosis 777
Varicella zoster virus (VZV) and the nervous system 777
Vascular dementia (VaD), vascular cognitive impairment (VCI) 778
Clinical features 779
Investigation 779
Differential diagnosis 779
Treatment and prognosis 779
Vascular malformations: overview 780
Vasculitis 780
Clinical features 781
Investigation 781
Differential diagnosis 782
Treatment and prognosis 782
Vegetative states 782
Clinical features 783
Investigation 783
Differential diagnosis 783
Treatment and prognosis 783
Venous sinus thrombosis (VST) 784
Clinical features 784
Investigation 784
Differential diagnosis 785
Treatment and prognosis 785
Verger–Déjerine syndrome 785
Vernant’s disease 786
Vestibular neuritis 786
Clinical features 786
Investigation 786
Differential diagnosis 787
Treatment and prognosis 787
Vestibular paroxysmia 787
Vestibular schwannoma 788
Clinical features 788
Investigation 789
Differential diagnosis 789
Treatment and prognosis 789
Visual loss: overview 790
Vitamin B12 deficiency 791
Clinical features 792
Investigation 792
Differential diagnosis 793
Treatment and prognosis 793
Vitamin deficiencies and the nervous system: overview 794
Clinical features 794
Investigation 794
Treatment and prognosis 795
Vogt–Koyanagi–Harada (VKH) syndrome 795
Clinical features 795
Investigation 795
Differential diagnosis 796
Treatment and prognosis 796
Von Hippel–Lindau (VHL) disease [OMIM#193300] 796
Clinical features 796
Investigation 797
Differential diagnosis 797
Treatment and prognosis 797
Von Winiwarter–Buerger’s disease 797
Clinical features 798
Investigation 798
Differential diagnosis 798
Treatment and prognosis 798
W 799
Wartenberg’s neuropathy 799
Clinical features 799
Investigation 799
Differential diagnosis 799
Treatment and prognosis 799
Weber–Christian disease 800
Wegener’s granulomatosis 800
Clinical features 801
Investigation 801
Differential diagnosis 801
Treatment and prognosis 801
Welander’s myopathy 802
Werdnig–Hoffmann disease [OMOM#253300] 802
Clinical features 802
Investigation 803
Differential diagnosis 803
Treatment and prognosis 803
Werner syndrome [OMIM#277700] 803
Wernicke–Korsakoff syndrome (WKS) 804
Clinical features 804
Investigation 805
Differential diagnosis 805
Treatment and prognosis 805
Whipple’s disease 806
Clinical features 806
Investigation 806
Differential diagnosis 807
Treatment and prognosis 807
Wilson’s disease [OMIM#277900] 807
Clinical features 807
Investigation 808
Differential diagnosis 808
Treatment and prognosis 808
Wolfram syndrome 809
Clinical features 809
Investigation 810
Differential diagnosis 810
Treatment and prognosis 810
Writing tremor 810
Wyburn-Mason disease 811
XYZ 812
Xeroderma pigmentosum (XP) 812
Clinical features 812
Investigations 813
Treatment and prognosis 813
X-linked dystonia-parkinsonism syndrome [OMIM#314250] 813
X-linked myopathy with excessive autophagy (XMEA) 814
Zinc deficiency 814