TY - JOUR
T1 - Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family
AU - Berdyński, Mariusz
AU - Kuźma-Kozakiewicz, Magdalena
AU - Ricci, Claudia
AU - Kubiszewska, Justyna
AU - Millecamps, Stéphanie
AU - Salachas, François
AU - Łusakowska, Anna
AU - Carrera, Paola
AU - Meininger, Vincent
AU - Battistini, Stefania
AU - Kwieciński, Hubert
AU - Zekanowski, Cezary
PY - 2012/1
Y1 - 2012/1
N2 - Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 1223% 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.
AB - Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 1223% 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.
KW - Amyotrophic lateral sclerosis
KW - Cu/Zn superoxide dismutase
KW - Mutation
KW - Recurrent
KW - SOD1
UR - http://www.scopus.com/inward/record.url?scp=84855381370&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84855381370&partnerID=8YFLogxK
U2 - 10.3109/17482968.2011.600316
DO - 10.3109/17482968.2011.600316
M3 - Article
C2 - 21877919
AN - SCOPUS:84855381370
VL - 13
SP - 132
EP - 136
JO - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
JF - Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
SN - 1466-0822
IS - 1
ER -