Hereditary Motor and Sensory Neuropathy Type VI with Optic Atrophy

Abstract

Abstract: : Purpose: to present the detailed clinical findings of a large family with Hereditary Motor and Sensory Neuropathy Type VI (HMSN VI) Methods: detailed history and physical examination of extended family of proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing. Results: twelve of ninety-seven family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene. Conclusions: the present family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. There was no association found with changes in the OPA1 gene.

Keywords: clinical (human) or epidemiologic studies: pre • genetics • visual impairment: neuro-ophthalmological dise