A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

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• 作者：Nicola Tambasco ; Pasquale Nigro ; Michele Romoli…
• 关键词：SNCA ; α ; synuclein ; Parkinson’s disease ; Genetics
• 刊名：Journal of Neural Transmission
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：123
• 期：11
• 页码：1301-1307
• 全文大小：372 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Pharmacology and Toxicology
  Psychiatry
  
• 出版者：Springer Wien
• ISSN：1435-1463
• 卷排序：123

文摘

Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5–10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.