A Family of Hereditary Olivopontocerebellar Atrophy (Menzel type OPCA, OPCA III with retinal degeneration).
- Author:
Seung Kil LIM
1
;
Il Nam SEONWOO
;
Ki Hwan KIM
;
Oh Woong KWON
;
Jung HO SEO
Author Information
1. Department of Neurology, Yeonsei University.
- Publication Type:Case Report
- MeSH:
Adult;
Atrophy;
Brain;
Brain Stem;
Cerebellar Ataxia;
Cerebellum;
Chronic Disease;
Dilatation;
Dysarthria;
Humans;
Male;
Mothers;
Nystagmus, Pathologic;
Olivopontocerebellar Atrophies*;
Retinaldehyde*;
Siblings
- From:Journal of the Korean Neurological Association
1984;2(1):77-83
- CountryRepublic of Korea
- Language:Korean
-
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.
