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KMID : 0857019990140010133
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Kosin Medical Journal
1999 Volume.14 No. 1 p.133 ~ p.139
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Three Cases of Spinocerbellar Ataxia Type 2 in a Family Confirmed by Molecular Genetic Study
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Park Young-Hyuk
Jang Yong-Seok
Kim Kwang-Soo
Yoo Kyung-Moo
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Abstract
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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 Z(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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KEYWORD
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SCA2, Molecular genetic study
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