Neurodegeneration

Volume Editor: Dr. Dennis W. Dickson, Department of Pathology, Neuropathology Laboratory, Mayo Clinic, Jacksonville, Florida, USA.

List of Contributors, viii Preface, xii

List of Abbreviations, xiii

Part 1 Introduction: Basic Mechanisms of Neurodegeneration

1 Introduction to Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 3
Dennis W. Dickson

2 Cell Death and Neurodegeneration, 6
Violetta N. Pivtoraiko and Kevin A. Roth

3 Oxidative Stress and Balance in Neurodegenerative Diseases, 10
George Perry, Siddhartha Mondragón-Rodríguez, Akihiko Nunomura, Xiongwei Zhu, Paula I. Moreira and Mark A. Smith

4 Protein Aggregation in Neurodegeneration, 13
Adriano Aguzzi and Veronika Kana

5 Protein Degradation in Neurodegeneration: The Ubiquitin Pathway, 18
Lynn Bedford, Robert Layfi eld, Nooshin Rezvani, Simon Paine, James Lowe and R. John Mayer

6 Genetics of Neurodegeneration, 22
John Hardy

7 Transgenic Animal Models of Proteinopathies, 26
Naruhiko Sahara, Heather Melrose, Simon D'Alton and Jada Lewis

Part 2 Alzheimer's Disease and Aging

8 Clinical Aspects of Alzheimer's Disease, 39
David Knopman

9 Genetics of Alzheimer's Disease, 51
Lars Bertram and Rudolph E. Tanzi

10 Neuropathology of Alzheimer's Disease and its Variants, 62
Charles Duyckaerts and Dennis Dickson

11 Amyloid-ß Production, 92
Colin L. Masters and Konrad Beyreuther

12 Elimination of Amyloid ß from the Brain, its Failure in Alzheimer's Disease and Implications for Therapy, 97
Roy O. Weller, Seth Love and James A.R. Nicoll

Part 3 Tauopathies

13 Introduction to the Tauopathies, 105
Michel Goedert

14 Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17, 110
Bernardino Ghetti, Zbigniew K. Wszolek, Bradley F. Boeve, Salvatore Spina and Michel Goedert

15 Progressive Supranuclear Palsy and Corticobasal Degeneration, 135
Dennis W. Dickson, Jean-Jaques Hauw, Yves Agid and Irene Litvan

16 Pick's Disease, 156
David G. Munoz, Huw R. Morris and Martin Rossor

17 Argyrophilic Grain Disease, 165
Markus Tolnay and Heiko Braak

18 Parkinsonism–Dementia Complex of Guam, 171
Kiyomitsu Oyanagi, Tomoyo Hashimoto and Mineo Yamazaki

19 Postencephalitic Parkinsonism, 179
Kurt A. Jellinger

Part 4 Synucleinopathies

20 Introduction to a-Synucleinopathies, 191
Maria Grazia Spillantini

21 Parkinson's Disease, 194
Kurt A. Jellinger

22 Dementia with Lewy Bodies and Parkinson's Disease Dementia, 224
Paul G. Ince

23 Lewy Bodies in Conditions other than Disorders of a-Synuclein, 238
Coro Paisán-Ruiz, Laura Parkkinen and Tamas Revesz

24 Multiple System Atrophy, 242
Janice L. Holton, Andrew J. Lees and Tamas Revesz

Part 5 Trinucleotide Repeat Disorders

25 Introduction to Trinucleotide Repeat Diseases, 255
H. Brent Clark

26 Huntington's Disease, 258
John C. Hedreen and Raymund A.C. Roos

27 Spinocerebellar Ataxias, 273
Hidehiro Mizusawa, H. Brent Clark and Arnulf H. Koeppen

28 Friedreich's Ataxia, 288
Arnulf H. Koeppen

29 Dentatorubral-pallidoluysian Atrophy, 299
Hitoshi Takahashi, Mitsunori Yamada and Shoji Tsuji

30 Spinal and Bulbar Muscular Atrophy, 307
Gen Sobue, Hiroaki Adachi and Masahisa Katsuno

Part 6 Prion Disorders

31 Introduction to Prion Disorders, 315
Adriano Aguzzi and Veronika Kana

32 Sporadic Creutzfeldt–Jakob Disease, 322
Herbert Budka, Mark W. Head, James W. Ironside, Pierluigi Gambetti, Piero Parchi and Fabrizio Tagliavini

33 Genetic Creutzfeldt–Jakob Disease, 336
Piero Parchi, Pierluigi Gambetti and Sabina Capellari

34 Fatal Familial and Sporadic Insomnia, 346
Piero Parchi, Sabina Capellari and Pierluigi Gambetti

35 A New Prion Disease: Protease-Sensitive Prionopathy, 350
Pierluigi Gambetti, Gianfranco Puoti, Qingzhong Kong and Wenquan Zou

36 Variant Creutzfeldt–Jakob Disease, 354
James W. Ironside, Mark W. Head and Robert G. Will

37 Gerstmann–Sträussler–Scheinker Disease, 364
Bernardino Ghetti, Fabrizio Tagliavini, Gabor G. Kovacs and Pedro Piccardo

38 Kuru, 378
Catriona Ann McLean

39 Iatrogenic Creutzfeldt–Jakob Disease, 381
James W. Ironside, Richard S.G. Knight and Mark W. Head

Part 7 Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis/Motor Neuron Disease

40 Introduction, 389
James Lowe

41 Frontotemporal Lobar Degeneration with TDP-43 Pathology, 393
Ian R.A. Mackenzie and Manuela Neumann

42 Neuronal Intermediate Filament Inclusion Disease, 404
Nigel J. Cairns

43 Frontotemporal Lobar Degeneration with FUS Immunoreactive Inclusions, 412
Manuela Neumann and Ian R.A. Mackenzie

44 Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy, 418
Michael J. Strong, Tibor Hortobágyi, Koichi Okamoto and Shinsuke Kato

Part 8 Other Neurodegenerative Disorders

45 Introduction: Genetic Analysis as a Lumper and Splitter in Neurodegenerative Disease, 437
John E. Duda

46 Inherited Amyloidoses and Neurodegeneration: Familial British Dementia and Familial Danish Dementia, 439
Tamas Revesz, Agueda Rostagno, Gordon Plant, Tammaryn Lashley, Blas Frangione, Jorge Ghiso and Janice L. Holton

47 Neurodegeneration with Brain Iron Accumulation, 446
John E. Duda and Kurt A. Jellinger

48 Familial Encephalopathy with Neuroserpin Inclusion Bodies, 456
Richard L. Davis and George H. Collins

49 Hereditary Ferritinopathies, 461
Ruben Vidal, Marie Bernadette Delisle, Olivier Rascol and Bernardino Ghetti

Index, 467