Hexosaminidase A activity and amyotrophic lateral sclerosis

Muscle Nerve. 1988 Mar;11(3):227-30. doi: 10.1002/mus.880110307.

Abstract

Abnormalities of GM2 ganglioside metabolism owing to hexosaminidase A (Hex A) deficiency have been associated with ALS phenotypes. The clinical features described in these ALS patients with Hex A deficiency include early onset, positive family history, and/or long disease duration. In an attempt to determine prospectively the incidence of Hex A deficiency within an ALS population, the records of The Mount Sinai Medical Center ALS Clinic were reviewed to select those patients with "atypical" ALS (total N = 52), i.e. onset before age 35, positive family history, and/or disease duration greater than 90 months. The control group (total N = 50), "typical" ALS patients, did not fulfill any of these historical criteria. Hex A activity determined in isolated peripheral blood leukocytes was normal in all typical ALS patients (mean 67.3%). Hex A deficiency was not found in any atypical ALS patients. Thus, Hex A deficiency apparently is an unusual etiology of typical or atypical ALS but is of medical and genetic importance in individual families.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age Factors
  • Amyotrophic Lateral Sclerosis / enzymology*
  • Amyotrophic Lateral Sclerosis / genetics
  • Female
  • Genes, Dominant
  • Hexosaminidase A
  • Humans
  • Jews
  • Leukocytes / enzymology
  • Male
  • Middle Aged
  • Phenotype
  • Prospective Studies
  • beta-N-Acetylhexosaminidases / deficiency*

Substances

  • Hexosaminidase A
  • beta-N-Acetylhexosaminidases