Muscle Aging, Inclusion-Body Myositis and Myopathies (eBook)

Edited by Valerie Askanas, MD, PhD, Departments of Neurology and Pathology, University of Southern California, Keck School of Medicine, CA, USA W. King Engel, MD, Departments of Neurology and Pathology, University of Southern California, Keck School of Medicine, CA, USA

List of Contributors, vii

Preface, xi

Part 1 Muscle Aging

1 Aging of the human neuromuscular system: pathological aspects,
3

W. King Engel and Valerie Askanas

2 Aging of the human neuromuscular system: clinical
considerations, 33

W. King Engel and Valerie Askanas

3 Aging of the human neuromuscular system: patient vignettes,
55

W. King Engel, Shalini Mahajan, and Valerie Askanas

4 Mitochondrial changes in aging with particular reference to
muscle, and possible clinical consequences, 81

Salvatore DiMauro, Eric Schon, and Michio Hirano

5 Protein degradation in aging cells and mitochondria: relevance
to the neuromuscular system, 89

Jenny K. Ngo and Kelvin J. A. Davies

6 Human muscle protein metabolism in relation to exercise and
aging: potential therapeutic applications, 97

Micah J. Drummond and Blake B. Rasmussen

Part 2 Sporadic Inclusion-Body Myositis

7 Pathogenesis of sporadic inclusion-body myositis: role of
aging and muscle-fiber degeneration, and accumulation of the same
proteins as in Alzheimer and Parkinson brains, 111

Valerie Askanas, W. King Engel, and Anna Nogalska

8 Inflammatory and autoimmune features of inclusion-body
myositis, 146

Marinos C. Dalakas

9 Sporadic inclusion-body myositis: clinical symptoms, physical
findings, and diagnostic investigations, 159

Frank L. Mastaglia

10 Pathologic diagnostic criteria of sporadic inclusion-body
myositis and hereditary inclusion-body myopathy muscle biopsies,
168

Valerie Askanas and W. King Engel

Part 3 Hereditary Inclusion-Body Myopathies

11 Function and mutations of the GNE gene leading to distal
myopathy with rimmed vacuoles/hereditary inclusion-body myopathy,
animal models, and potential treatment, 177

May Christine V. Malicdan, Satoru Noguchi, and Ichizo
Nishino

12 GNE myopathy (hereditary inclusion-body myopathy/distal
myopathy with rimmed vacuoles): clinical features and epidemiology,
191

Zohar Argov, Ichizo Nishino, and Ikuya Nonaka

13 Consequences of the hereditary inclusion-body
myopathy-characteristic GNE mutations on muscle proteins in vivo
and in vitro, 199

Aldobrando Broccolini and Massimiliano Mirabella

14 Function and structure of VCP mutations leading to
inclusion-body myopathy associated with Paget disease of bone and
frontotemporal dementia, 206

Cezary Wojcik

15 Clinical spectrum of VCP myopathy, Paget disease, and
frontotemporal dementia: experimental models and potential
treatments, 219

Virginia E. Kimonis, Eric Dec, Mallikarjun Badadani, Angele
Nalbandian, Jouni Vesa, Vincent Caiozzo, Douglas Wallace, Barbara
Martin, Charles Smith, and Giles D. Watts

16 Drosophila and mouse models of hereditary myopathy caused by
mutations in VCP/p97, 230

Nisha M. Badders and J. Paul Taylor

Index, 241