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Arch Neurol. 2003 Dec;60(12):1768-71.

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Author information

1
Centre for Research in Neuroscience, McGill University, and Montréal General Hospital Research Institute, Montréal, Quebec, Canada.

Abstract

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.

PMID:
14676054
DOI:
10.1001/archneur.60.12.1768
[Indexed for MEDLINE]
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