Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis

Ann Neurol. 2005 Nov;58(5):800-3. doi: 10.1002/ana.20665.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / genetics*
  • DNA Mutational Analysis / methods
  • Disease Progression
  • Exons
  • Follow-Up Studies
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans
  • Male
  • Mutation / genetics*


  • ALS2 protein, human
  • Guanine Nucleotide Exchange Factors