Muscle Aging, Inclusion–Body Myositis and Myopathies

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