Article
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
Muscle & nerve - 1 Jul 2003
Drory Vivian E, Birnbaum Miriam, Peleg Leah, Goldman Boleslaw, Korczyn Amos D
Abstract excerpt
Patients with adult hexosaminidase A (Hex A) deficiency may have clinical manifestations similar to amyotrophic lateral sclerosis (ALS). Mutations in the hexosaminidase A (HEXA) gene are common in the Jewish Ashkenazi population in Israel. Serum samples of 115 Israeli patients with sporadic ALS were screened for enzymatic activity to detect "enzyme-based carriers." Fifteen samples with low (< 50%) enzymatic...
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