지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 274 - 279 (6page)
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초록· 키워드
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Background Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established. Case Report Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8. Conclusions Our findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.
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등록된 정보가 없습니다.
참고문헌 (23)
참고문헌 신청
Baba Y / 2005 / Sporadic SCA8 mutation resembling corticobasal degeneration / Parkinsonism & Related Disorders 11 : 147 ~ 150
Bereznai B / 2010 / Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome / Journal of the Neurological Sciences 293 :
Brusco A / 2002 / Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions / Journal of Neurology 249 : 923 ~ 929
Day JW / 2000 / Spinocerebellar ataxia type 8: clinical features in a large family / Neurology 55 : 649 ~ 657
Factor SA / 2005 / False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy / Annals of Neurology 57 : 462 ~ 463
Bereznai B / 2010 / Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome / Journal of the Neurological Sciences 293 :
Brusco A / 2002 / Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions / Journal of Neurology 249 : 923 ~ 929
Day JW / 2000 / Spinocerebellar ataxia type 8: clinical features in a large family / Neurology 55 : 649 ~ 657
Factor SA / 2005 / False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy / Annals of Neurology 57 : 462 ~ 463
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