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Familial amyotrophic lateral sclerosis

T Siddique1, A Hentati

  • 1Department of Neurology, Northwestern University Medical School, Chicago, IL 60611, USA.

Clinical Neuroscience (New York, N.Y.)
|January 1, 1995
PubMed
Summary

Familial ALS (FALS) involves genetic mutations, often in the SOD1 gene. Research suggests mutated SOD1 gains a toxic function, causing motor neuron degeneration in dominant forms of FALS.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a hereditary component, accounting for 10% of cases.
  • Familial ALS (FALS) presents as either autosomal dominant (DFALS) or autosomal recessive (RFALS).
  • Mutations in the Cu,Zn superoxide dismutase (SOD1) gene on chromosome 21 are found in 15% of DFALS families.

Purpose of the Study:

  • To explore the genetic heterogeneity of Familial ALS (FALS).
  • To investigate the pathogenic mechanisms of mutated SOD1 in DFALS.
  • To discuss the potential role of neurofilaments and map loci for RFALS and ALS-dementia.

Main Methods:

  • Genetic analysis of FALS families.
  • Biochemical assessment of SOD1 activity and protein half-life.
  • Review of existing observations and literature on ALS pathogenesis.

Main Results:

  • Mutations in SOD1 are linked to DFALS, often leading to reduced SOD1 activity.
  • Evidence suggests a gain of toxic function by mutated SOD1 is a primary driver of motor neuron degeneration.
  • Loci for RFALS and hereditary ALS-dementia syndrome have been mapped to chromosomes 2q33 and 17q21-22, respectively.

Conclusions:

  • The neurodegeneration in DFALS may result from a novel toxic function of mutated SOD1, not just decreased activity.
  • Neurofilament involvement is considered in ALS pathogenesis.
  • Genetic mapping provides insights into the diverse genetic underpinnings of FALS and related syndromes.

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