Homozygous and heterozygous PINKI mutations:: Considerations for diagnosis and care of Parkinson's disease patients

被引：30

作者：

Zadikoff, Cindy

Rogaeva, Ekaterina

Djarmati, Ana

Sato, Christine

Salehi-Rad, Shabnam

St George-Hyslop, Peter

Klein, Christine

Lang, Anthony E.

机构：

[1] Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Ctr, Toronto, ON M5T 2S8, Canada

[2] Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[3] Luebeck Univ, Dept Neurol, Lubeck, Germany

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 06期

关键词：

PINK1; Parkinson's disease; mutation; gene;

D O I：

10.1002/mds.20854

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. (c) 2006 Movement Disorder Society.

引用

页码：875 / 879

页数：5

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