Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

被引：7

作者：

Berdynski, Mariusz ^{[1
]}

Kuzma-Kozakiewicz, Magdalena ^{[2
]}

Ricci, Claudia ^{[3
]}

Kubiszewska, Justyna ^{[2
]}

Millecamps, Stephanie ^{[4
]}

Salachas, Francois ^{[5
]}

Lusakowska, Anna ^{[2
]}

Carrera, Paola ^{[3
]}

Meininger, Vincent ^{[5
]}

Battistini, Stefania ^{[3
]}

Kwiecinski, Hubert ^{[2
]}

Zekanowski, Cezary ^{[1
,2
]}

机构：

[1] Polish Acad Sci, Neurogenet Lab, Dept Neurodegenerat Disorders, Mossakowski Med Res Ctr, PL-02106 Warsaw, Poland

[2] Med Univ Warsaw, Dept Neurol, Warsaw, Poland

[3] Univ Siena, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy

[4] Univ Paris 06, Hop La Pitie Salpetriere, Inst Cerveau & Moelle Epiniere, Ctr Rech,INSERM,UMR S975,CNRS,UMR7225, Paris, France

[5] Hop La Pitie Salpetriere, APHP, Ctr Reference Malad Rares SLA, Paris, France

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2012年 / 13卷 / 01期

关键词：

Amyotrophic lateral sclerosis; Cu/Zn superoxide dismutase; SOD1; mutation; recurrent; WILD-TYPE; MUTANT SOD1; ALS; DISEASE; AGGREGATION; PHENOTYPE; MODIFIER; ONSET; AGE;

D O I：

10.3109/17482968.2011.600316

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely short survival time. The mutation has been initially detected in Italian ALS families with common founder effect. However, in the Polish population the G41S mutation most probably originated from an independent mutation event, as indicated by haplotype analysis. Collected data support the hypothesis that a SOD1 mutation is not the sole factor determining the clinical ALS phenotype.

引用

页码：132 / 136

页数：5

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