분자유전자검사로 확진된 척수소뇌운동실조 2명 한가족 3례 (Three Cases of Spinocerebellar Ataxia Type 2 in a Family Confirmed by Molecular Genetic Study)

서지정보

· 발행기관 : 고신대학교(의대) 고신대학교 의과대학 학술지
· 수록지 정보 : 고신대학교 의과대학 학술지 / 14권 / 1호 / 133 ~ 139페이지
· 저자명 : 박영혁, 장용석, 김광수, 유경무

초록

Background : The autosomal dominant cerebellar ataxia (ADCA) represent a clinically and genetically heterogeneous group of disorders linked by progressive deterioration in balance and coordination. Recently, CAG trinucleotide repeats have been identified in inherited neurodegenerative disease by molecular genetic study. Spinocerebellar ataxia 2 (SCA2) is one form of ADCA type 1 and a multi-systemic syndrome caused by abnormal expansion of unstable CAG repeat in a novel gene located on chromosome 12q23-24.
Methods : We have genetic study on a family members presenting with combination of gait ataxia, dysarthria, impairment of eye movement, pyramidal and extrapyramidal signs.
Results : All members of the third generation of pedigree represented gait disturbance and dysarthria. MRI revealed some degree of atrophy of cerebellum and brainstem. Three of them had expanded CAG repeat in a novel gene located on chromosome 12q23-24.
Conclusions : We report three cases of SCA2 in a family confirmed by expanded SCA2 alleles.

영어초록

Background : The autosomal dominant cerebellar ataxia (ADCA) represent a clinically and genetically heterogeneous group of disorders linked by progressive deterioration in balance and coordination. Recently, CAG trinucleotide repeats have been identified in inherited neurodegenerative disease by molecular genetic study. Spinocerebellar ataxia 2 (SCA2) is one form of ADCA type 1 and a multi-systemic syndrome caused by abnormal expansion of unstable CAG repeat in a novel gene located on chromosome 12q23-24.
Methods : We have genetic study on a family members presenting with combination of gait ataxia, dysarthria, impairment of eye movement, pyramidal and extrapyramidal signs.
Results : All members of the third generation of pedigree represented gait disturbance and dysarthria. MRI revealed some degree of atrophy of cerebellum and brainstem. Three of them had expanded CAG repeat in a novel gene located on chromosome 12q23-24.
Conclusions : We report three cases of SCA2 in a family confirmed by expanded SCA2 alleles.

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