Peer-Reviewed Journal Details
Mandatory Fields
Hand C.;Devon R.;Gros-Louis F.;Rochefort D.;Khoris J.;Meininger V.;Bouchard J.;Camu W.;Hayden M.;Rouleau G.
2003
December
Archives of Neurology
Mutation Screening of the ALS2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis
Validated
Optional Fields
60
12
1768
1771
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. Conclusion: Mutations of ALS2 are not a common cause of ALS.
0003-9942
10.1001/archneur.60.12.1768
Grant Details