Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (HMSN type VI) has been described, and the first in which electrophysiological studies have been reported.
Chalmers
R M
RM
University Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, London, UK.
Riordan-Eva
P
P
Wood
N W
NW
D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree