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Ann Neurol. 2005 Nov;58(5):800-3.

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.

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1
Department of Human Genetics, University of Giessen, Giessen, Germany.

Abstract

We present a 32-year-old Turkish male with juvenile amyotrophic lateral sclerosis 2 and a previously unrecognized homozygous deletion in exon 4 of the ALS2 gene (553delA). Disease progression is more rapid than in the ALS2 phenotype cases described to date. The patient's consanguineous parents carry the mutation in the heterozygous state as do his two unaffected brothers.

PMID:
16240357
DOI:
10.1002/ana.20665
[Indexed for MEDLINE]
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