Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
BACKGROUND
Mutations in the ALS2 gene cause juvenile-onset autosomal recessive amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia.


OBJECTIVE
To assess the role of ALS2 among more common forms of ALS.


METHODS
DNA from 95 unrelated familial, 95 unrelated sporadic, and 11 early-onset ALS patients was screened for mutations in ALS2 by denaturing high-performance liquid chromatography and direct sequencing of polymerase chain reaction-amplified fragments. Each variant identified was also analyzed among control subjects. All 34 exons of ALS2 plus the 5' and 3' untranslated region were screened.


RESULTS
We detected 23 novel sequence variants; however, none is disease-associated.


CONCLUSIONS
Mutations of ALS2 are not a common cause of ALS.
Hand
Collette K
CK
Centre for Research in Neuroscience, McGill University, and Montréal General Hospital Research Institute, Montréal, Quebec, Canada.
Devon
Rebecca S
RS
Gros-Louis
Francois
F
Rochefort
Daniel
D
Khoris
Jawad
J
Meininger
Vincent
V
Bouchard
Jean-Pierre
JP
Camu
William
W
Hayden
Michael R
MR
Rouleau
Guy A
GA
D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors