우성 유전성 Olivopontocerebellar Atrophy 3예

Dominantly inherited olivopontocerebellar atrophy(OPCA) is a progressive autosomal dominant neurodegenerative disorder characterized clinically by ataxia and histologically by neuronal degeneration in the inferior olives, pons, and cerebellar cortex. Three patients in a family sith hereditary OPCA are described. The mode of inheritance was autosomal dominant. The clinical manifestations were insidious progressive cerebellar ataxia, gait disturbance, and dysarthria. One patient showed slow eye movement and pyramidal signs. The brain magnetic resonance imaging(MRI) showed significant atrophy of brainstem and cerebellum with dilatation of the 4th ventricle and prepontine cistern. The evoked potential studies revealed absent bilateral tibial and median nerves somatosensory evoked protentials(SSEP) and prolonged absolute latency of Ⅲ wave in the left ear brainstem auditory evoked protentials(BAEP). KCI Citation Count: 0