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Journal of the Korean Academy of Rehabilitation Medicine 2001;25(4):714-719.
Spinocerebellar Ataxia Type 3 Confirmed by Genomic Molecular Analysis: A case report.
Ahn, Kyung Hoi , Kim, Hee Sang , Kim, Hye Wan , Kim, Dong Hwan , Yu, Seung Don , Cha, Sang Min , Park, Sung Sup
1Department of Rehabilitation Medicine, Kyung Hee University College of Medicine.
2Department of Clinical Pathology, Seoul National University College of Medicine.
분자 유전 검사로 확진된 척수소뇌성 운동 실조증 3형 ⁣증례 보고⁣
안경회, 김희상, 김혜완, 김동환, 유승돈, 차상민, 박성섭1
경희대학교 의과대학 재활의학교실, 1서울대학교 의과대학 임상병리과학교실

Dominantly inherited spinocerebellar ataxias (SCAs) are a group of the heterogenous neurodegenerative diseases that are characterized by chronic progressive cerebellar ataxia associated with various combinations of other neurological signs. Clinical classification is difficult because of the phenotypic overlap. With the evolution of molecular genetics, the loci and mutations for many of the ataxias have been identified, allowing more definitive molecular classification.

We experienced 42 years-old man who presented with progressive both lower leg weakness, dysarthria, ataxia, ophthalmoplegia, and nystagmus. The family history was remarkably suspicious. We could not observe the upper extremity weakness, definite evidences of peripheral neuropathy and myopathy in electrodiagnosis. No abnormal findings in blood chemistry and brain MRI. We performed polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) analysis, found that his gene contained expanded CAG repeats (CAG repeat number was 72). Although no effective treatment exists for most the ataxic syndromes, the accurate diagnosis and the genetic counseling are often important to the patient's family for prognostication.

Key Words: SCA3, Spinocerebellar ataxia, SCA3, Ataxia, Machado-Joseph disease


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