Motor Neuron Disease


Johns Hopkins University School of Medicine

I. Amyotrophic Lateral Sclerosis and Familial Amyotrophic Lateral Sclerosis

II. Spinal and Bulbar Muscular Atrophy

III. Hereditary Spastic Paraplegia

IV. Spinal Muscular Atrophy

V. Mouse Models of Tauopathies

VI. Conclusions

The motor neuron diseases, an etiologically heterogeneous group of disorders, are manifested by weakness (muscle atrophy) and/or spastic paralysis, reflecting the selective involvement of lower motor neurons and/ or upper motor neurons, respectively. Amyotrophic lateral sclerosis, the most common adult-onset motor neuron disease, involves both lower and upper motor neurons. Spinobulbar muscular atrophy (or Kennedy's disease) and spinal muscular atrophy selectively affect lower motor neurons, whereas hereditary spastic paraplegia predominently involves upper motor neurons. During the past several years, significant progress has been made in identifying some of the genes/ chromosomal loci associated with these illnesses. We briefly describe the clinical features/neuropathology of several of these diseases and then discuss recent progress in understanding the genetics and molecular/cell biology of these diseases and the status of investigations of in vivo and in vitro models relevant to some of these illnesses.

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