Hereditary motor and sensory neuropathy type VI with optic atrophy.
OBJECTIVE
To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy.


METHODS
Observational case series.


METHODS
A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing.


RESULTS
Twelve of 97 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
This family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. No association was found with changes in the OPA1 gene.
D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009898:Optic Disk / Q000473:pathology; D010375:Pedigree; D013577:Syndrome; D014792:Visual Acuity
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human