Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles. The UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene was recently identified as the causative gene for hereditary inclusion body myopathy (HIBM). To investigate whether DMRV and HIBM are allelic diseases, we conducted mutational analysis of the GNE gene of six Japanese DMRV pedigrees and found that all the pedigrees share a homozygous mutation (V572L) associated with a strong linkage disequilibrium, suggesting a strong founder effect in Japanese DMRV pedigrees.

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A patient with chronic bromvalerylurea poisoning showed cerebellar ataxia and peripheral neuropathy. The patient was a 42-year-old Japanese man who developed consciousness disturbance, diplopia, slurred speech, ataxia and gait disturbance after having taken bromvalerylurea for ten years. Magnetic resonance imaging revealed atrophy of the cerebellum and pontine tegmentum.An electrophysiological study revealed decreased motor nerve conduction velocity and amplitude of compoundmuscle action potentials of the right tibial nerve. Histological findings of the left sural nerve indicated a slightly decreased large myelinated fiber diameter, which suggested chronic axonal damage. (Internal Medicine 36: 742-746, 1997)

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