title: Hexosaminidase A activity and amyotrophic lateral sclerosis.
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.
authors.affiliation: Department of Neurology, Mount Sinai Medical Center, New York, NY.
authors.forename: M
authors.initials: M
authors.lastname: Gudesblatt
authors.forename: M D
authors.initials: MD
authors.lastname: Ludman
authors.forename: J A
authors.initials: JA
authors.lastname: Cohen
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
authors.forename: S
authors.initials: S
authors.lastname: Chester
authors.forename: G A
authors.initials: GA
authors.lastname: Grabowski
authors.forename: J T
authors.initials: JT
authors.lastname: Caroscio
mesh_terms: D000367:Age Factors; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D054818:Hexosaminidase A; D006801:Humans; D007585:Jews; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011446:Prospective Studies; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency*
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases