Late onset autosomal dominant cerebellar ataxia / Ataxia cerebelar autossomica dominante de inicio tardio

RESUMO

The authors describe the clinical, laboratorial, neuroradiological and electrophysiological findings of two cases of late onset autosomal dominant cerebellar ataxia. The first case, a 66-year-old woman, had other clinical features associated to the cerebellar syndrome (upper eyelids retraction, upward gaze paralusis, peripheral neuropathy, amiotrophy), slowed sensory nerve conduction velocities and aonormal BAEP. The second case, a 30-year-old man, had a pure cerebellar syndrome, with normal electrophysiological findings. In both cases, CT-scans disclosed hemispheral cerebellar atrophy, and a marked brainstem atrophy in the first case. Drug treatment with choline chloride and TRH were tried in both cases, and were unsuccessful. Several aspects related to this group ou neurogenetic diseases are discussed