Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

被引：10

作者：

Bras, Jose M. ^{[1
]}

Guerreiro, Rita J. ^{[1
]}

Teo, James T. H. ^{[2
]}

Darwent, Lee ^{[1
]}

Vaughan, Jenny ^{[2
]}

Molloy, Sophie ^{[2
]}

Hardy, John ^{[1
]}

Schneider, Susanne A. ^{[2
,3
]}

机构：

[1] UCL, Inst Neurol, Dept Mol Neurosci, London, England

[2] Charing Cross Hosp, Imperial Coll Healthcare NHS Trust, Dept Clin Neurosci, London, England

[3] Univ Kiel, Dept Neurol, Arnold Heller Str 3, D-24105 Kiel, Germany

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2014年 / 1卷 / 01期

基金：

英国惠康基金;

关键词：

atypical parkinsonism; genetic; DJ1; PARK7; exome sequencing;

D O I：

10.1002/mdc3.12008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a sporadic case of atypical parkinsonism-dystonia of subacute onset at the age of 16 years in a male from a consanguineous family. He showed marked orofacial dystonia, levodopa- induced dyskinesia, and a stereotyped bilateral eye-pressing movement disorder. We combined Sanger sequencing of candidate genes, homozygosity mapping, and whole-exome sequencing. A homozygous mutation was identified disrupting a splice site in exon 5 of the DJ1 (PARK7) gene. Clinical details and a video are provided. DJ1 mutations are a rare cause of atypical complex parkinsonism. Exome sequencing is efficacious in identifying the causal gene variant.

引用

页码：45 / 49

页数：5

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