PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of Parkinsonism

被引：39

作者：

Criscuolo, Chiara

Volpe, Giampiero

De Rosa, Anna

Varrone, Andrea

Marongiu, Roberta

Mancini, Pietro

Salvatore, Elena

Dallapiccola, Bruno

Filla, Alessandro

Valente, Enza Maria

De Michele, Giuseppe

机构：

[1] Univ Naples Federico II, Dept Neurol Sci, I-80131 Naples, Italy

[2] Univ Naples Federico II, CNR, IBB, Dept Biomorphol & Funct Sci, I-80131 Naples, Italy

[3] Mendel Inst Med Genet & Twin Res, CSS IRCCS, Rome, Italy

[4] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 08期

关键词：

PINK1; familial Parkinsonism; PARK6; early onset;

D O I：

10.1002/mds.20933

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1265 / 1267

页数：3

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