Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding
โ Scribed by Dr. Akio Ohnishi; Dr. Yoshiyuki Murai; Dr. Masato Ikeda; Dr. Tsutomu Fujita; Dr. Hirokazu Furuya; Dr. Yoshigoro Kuroiwa
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 873 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0148-639X
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## Abstract The autosomal dominant (AD) spinocerebellar ataxias (SCAs) and hereditary sensory neuropathies (HSN) are heterogeneous disorders characterized by variable clinical, electrophysiological, and neuropathological profiles. The SCAs are clinically characterized by slowly progressive incoordi
We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural ne