FAMILIAL BULBOSPINAL NEURONOPATHY WITH OPTIC ATROPHY - A DISTINCT ENTITY

A 61 year old woman and her 58 year old brother presented with the cli nical picture of late onset progressive bulbar and spinal muscular atr ophy with family history of involvement in successive generations. The sister also had optic neuropathy and the brother developed diabetes m ellitus and sex hormone abnormalities. Neurophysiological and histopat hological studies showed a pattern of motor and sensory neuronopathy. There was no abnormal expansion of CAG repeats in the androgen recepto r gene. This family seems to have a previously unrecognised entity wit h the bulbospinal neuronopathy phenotype.