A case of spinocerebellar ataxia type 3 : Clinically suspected sporadic inheritance

J Korean Neurol Assoc > Volume 15(1); 1997 > Article

Journal of the Korean Neurological Association 1997;15(1): 204-210.

산발성으로 추정되는 척수소뇌성 실조증 3형 1예

이원용, 진동규

삼성의료원 신경과. 소아과

A case of spinocerebellar ataxia type 3 : Clinically suspected sporadic inheritance

Won Yong Lee, M.D., and Dong Kyu Jin, M.D.

Department of Neurology and Pediatrics, Samsung Medical Center

Abstract

The spinocerebellar ataxia are a heterogeneous group of neurodegeneative disorders varying in both clinical manifestations and mode of inheritance. Recently, CAG trinucleotide repeats have been identified in inherited neurodegenerative disease such as dentrorubopallidoluysian atrophy, spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD) and SCA3. Individuals with SCA3 are phenotypically similar to those with SCA1 and, like MJD, the locus is linked to genetic markers on chromosome 14q24.3-qter. We experienced 38 year old man who presented with slowly progressive cerebellar dysfunction. Family history was not remarkable. We could not observe orofacial fasciculation, ophthalmoplegia, optic atrophy, peripheral neuropathy, amyotrophy, or dystonia. We peformed genomic polymerase chain reaction (PCR) analysis with patient's blood samples using the following primers: MJD52 (5'-CCAGTGAC TACTTTGATTCG-3') and MJD25 (3'-AAGTGTAGGTACACTTTCCGGT-5'). We found that his gene contained expanded CAG repeats (CAG repeat number was 69). We reported a clinically suspected sporadic case of genetically confirmed SCA3 who shared a similar genetic mutation with MJD and similar clinical presentation with SCA1. To our knowledge, this is the first case report on SCA3 in Korea. We think that the further genetic study with his family members should be done to evaluate mode of inheritance in this case.