title: Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis in two brothers.
abstract: Two brothers aged 75 and 61 years, born from non-consanguineous non-affected parents, had spinocerebellar ataxia and impaired proprioception in the lower limbs, associated with sensorineural deafness, amyotrophy of the hands and spastic paraparesis. The older patient also had vitiligo of the right hand, and both displayed likely dysendocrine features. The disease was present since the second-third decade and showed a slow course. An EMG confirmed a neurogenic disorder strictly localized to the distal upper limbs. This new phenotype of heredoataxia is compared with previously reported similar syndromes and, in particular, with diseases featuring localized amyotrophy of the hands.
mesh_terms: D000368:Aged; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D003638:Deafness / Q000235:genetics*; D006225:Hand; D006801:Humans; D007866:Leg; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity; D009133:Muscular Atrophy / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D011434:Proprioception