PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism
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DOI：
10.1002/mds.20933
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发表时间：
2006-08-01
影响因子：
8.6
通讯作者：
De Michele, Giuseppe
中科院分区：
文献类型：
--
作者：
Criscuolo, Chiara;Volpe, Giampiero;De Michele, Giuseppe
我们对58例早发性帕金森综合征患者的PINK1基因进行了分析，并在1例患者中检测到纯合突变W437X。其临床表型特点为发病早（22岁），对左旋多巴反应良好，早期出现波动和异动症，以及精神症状。其母亲为W437X突变杂合子，患有帕金森病，并且据报道还有另外3名亲属患病，符合常染色体显性遗传。（C）2006运动障碍学会
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in I patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission. (C) 2006 Movement Disorder Society.