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Hexosaminidase a activity and amyotrophic lateral sclerosis
Author(s) -
Gudesblatt Mark,
Ludman Mark D.,
Cohen Jeffrey A.,
Desnick Robert J.,
Chester Sara,
Grabowski Gregory A.,
Caroscio James T.
Publication year - 1988
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880110307
Subject(s) - amyotrophic lateral sclerosis , hexosaminidase , medicine , neuroscience , physical medicine and rehabilitation , psychology , chemistry , biochemistry , disease , enzyme
Abnormalities of GM 2 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.