Familial amyotrophic lateral sclerosis Teepu Siddique and Afif Hentati

Teepu Siddique*, Hentati Afif

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) is inherited in (en percent of cases as a Mendelien trait. Familial ALS (FALS) is genetically heterogeneous and transmitted > either as an autosomal dominant (DFALS) or an autosomat recessive (RFALS) trait. Fifteen percent of DFALS families have mutations in the gene for Cu.Zn Superoxide dismutase (SOD1) which is coded on chromosome 21. These mutations result in decreased SOD1 activity and shortened half-life of the protein in most instances. Several observations suggest that the degeneration of motor neurons in DFALS is caused by the gain of a novel toxic function by mutated SOD1 rather than by the decrease ofSODl activity. Possible mechanisms of the novel neurotoxic function of mutated SOD1 are discussed. The role of eventual neurofilament involvement in the pathogenesis of ALS is also discussed. The locus for one form ofRFALS has been mapped to chromosome 2q33. FALS can also be associated with dementia and the gene locus for one form of hereditary ALSdementia syndrome maps to chromosome 17q21-22. 01996 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)338-347
Number of pages10
JournalClinical Neuroscience
Volume3
Issue number6
StatePublished - Dec 1 1995

Keywords

  • Amyotrophic lateral sclerosis
  • Animal model of disease
  • Free radicals
  • Genetics
  • Neurodegeneration
  • Superoxide dismatase

ASJC Scopus subject areas

  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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