A Family of Hereditary Olivopontocerebellar Atrophy (Menzel type OPCA, OPCA III with retinal degeneration)

J Korean Neurol Assoc > Volume 2(1); 1984 > Article

Journal of the Korean Neurological Association 1984;2(1): 74-83.

유전성 Olivopontocerebellar Atrophy (Menzel 형, OPCA III )1가족례

임승길, 선우일남, 김기환,권오웅, 서정호

연세대학교 신경과, 안과, 방사선과.

A Family of Hereditary Olivopontocerebellar Atrophy (Menzel type OPCA, OPCA III with retinal degeneration)

Seung-Kil Lim, M.D., Il-Nam Seonwoo M.D., Ki-Hwan Kim, M.D., Oh-Woong Kwon M.D., Jung-HO Seo M.D.

Department of Neurology, Ophthalmology, Radiology Yeonsei University

Abstract

This is a case report of the familial olivo-ponto-cerebellar atrophy (Menzel type OPCA, OPCA III with retinal degeneration). The patient is a 37 year-old male with 5 years history of slowly progressive cerebellar ataxia, dysarthria, visual change, horizontal nystagmus and signs of pyramidal dysfunction. The CT brain scan shows significant atrophy of brain stem and cerebellum with dilatation of cisterns. His younger sister, also, has similar clinical manifestations and radiological abnormalities, but mild. By history, his mother who died at 47 years of her age looked like to have same kind of chronic disease.