Hexosaminidase A activity and amyotrophic lateral sclerosis.
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.
Gudesblatt
M
M
Department of Neurology, Mount Sinai Medical Center, New York, NY.
Ludman
M D
MD
Cohen
J A
JA
Desnick
R J
RJ
Chester
S
S
Grabowski
G A
GA
Caroscio
J T
JT
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*
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases