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

作者：Tambasco Nicola^*; Nigro Pasquale; Romoli Michele; Prontera Paolo; Simoni Simone; Calabresi Paolo

来源：Journal of Neural Transmission, 2016, 123(11): 1301-1307.

DOI：10.1007/s00702-016-1578-6

• SNCA
• alpha-synuclein
• Parkinson's disease
• Genetics

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.

• 出版日期2016-11
• 单位Perugia