AUTOSOMAL RECESSIVE INHERITANCE OF HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH OPTIC ATROPHY

Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HIMSN) and adult onset optic atrophy. Electrophysi ological studies showed an axonal neuropathy and dysfunction of the re tinal 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 bee n described, and the first in which electrophysiological studies have been reported.