Mutations in FUS cause FALS and SALS in French and French Canadian populations.
BACKGROUND
The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease.


METHODS
To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported.


RESULTS
In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS.


CONCLUSIONS
Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis.
Belzil
V V
VV
CHUM Research Centre, Notre-Dame Hospital, Y-3633 Montreal, Quebec, Canada.
Valdmanis
P N
PN
Dion
P A
PA
Daoud
H
H
Kabashi
E
E
Noreau
A
A
Gauthier
J
J
Hince
P
P
Desjarlais
A
A
Bouchard
J-P
JP
Lacomblez
L
L
Salachas
F
F
Pradat
P-F
PF
Camu
W
W
Meininger
V
V
Dupré
N
N
Rouleau
G A
GA
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002170:Canada; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D034702:RNA-Binding Protein FUS / Q000235:genetics*
D034702:RNA-Binding Protein FUS