Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.
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.
Kress
Julia A
JA
Department of Human Genetics, University of Giessen, Giessen, Germany.
Kühnlein
Peter
P
Winter
Pia
P
Ludolph
Albert C
AC
Kassubek
Jan
J
Müller
Ulrich
U
Sperfeld
Anne-Dorte
AD
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D018450:Disease Progression; D005091:Exons; D005500:Follow-Up Studies; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors