Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1

被引：28

作者：

Leutenegger, Anne-Louise

Salih, Mustafa A. M.

Ibanez, Pablo

Mukhtar, Maowia M.

Lesage, Suzanne

Arabi, Ali

Lohmann, Ebba

Durr, Alexandra

Ahmed, Ammar E. M.

Brice, Alexis

机构：

[1] Hop La Pitie Salpetriere, INSERM, U679, Hop Paris, F-75651 Paris 13, France

[2] Univ Paris 06, Fac Med, F-75252 Paris, France

[3] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, APHP, Paris, France

[4] Hop La Pitie Salpetriere, APHP, Fed Neurol, Paris, France

[5] King Saud Univ, Coll Med, Div Pediat Neurol, Dept Pediat, Riyadh, Saudi Arabia

[6] Univ Khartoum, Fac Med, Inst Endem Dis, Khartoum, Sudan

[7] Univ Khartoum, Fac Med, Dept Pediat, Khartoum, Sudan

[8] Univ Khartoum, Fac Med, Dept Physiol, Khartoum, Sudan

来源：

ARCHIVES OF NEUROLOGY | 2006年 / 63卷 / 09期

关键词：

D O I：

10.1001/archneur.63.9.1257

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Mutations in the PTEN-induced putative kinase 1 ( PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.

引用

页码：1257 / 1261

页数：5

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