Early Onset Parkinson's disease due to DJ1 mutations: An Indian study
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- 作者：Masoom M. Abbasa ; Shyla T. Govindappaa ; Sumedha Sudhamanb ; B.K. Thelmab ; Ramesh C. Juyalc ; Madhuri Beharid ; 1 ; Uday B. Muthanea ; umuthane@usa.net" class="auth_mail" title="E-mail the corresponding author ; autonomiclab@yahoo.co.in" class="auth_mail" title="E-mail the corresponding author
- 关键词：Early onset Parkinson's disease ; DJ1mutation ; Phenomenology ; Genetics
- 刊名：Parkinsonism & Related Disorders
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：32
- 期：Complete
- 页码：20-24
- 全文大小：327 K
文摘
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Early Onset Parkinson's Disease is rare and usually due to parkin mutations.
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DJ1 mutations causing EOPD are rare.
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Presentation is with slowly progressive typical parkinsonian symptoms with good levodopa response.
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A novel missense mutation p. Ile105Phe in exon 5 was noted in the present study.
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Extreme motor restlessness to levodopa was a unique feature in this patient with p. Ile105Phe mutation.