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Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis

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 activity were subjected to mutation analysis, which included the two common mutations in the HEXA gene among Ashkenazi Jews (+1278TATC and IVS12+1G→C). Three “enzymatic carrier” patients of Moroccan origin were checked for two additional mutations (ΔF304/305 and Arg170→Gln), specific to this ethnic group. Two “enzymatic carrier” patients of Iraqi origin were analyzed for the mutation Gly250→Val, specific to this population. The mutation Gly 269→Ser was screened in carriers of Ashkenazi origin only (n = 10). The only abnormalities found were heterozygous +1278TATC mutations in two Ashkenazi patients. Their clinical presentation was not different from that usually encountered in ALS. The frequency of mutations in the HEXA gene among Israeli ALS patients was not higher than in the healthy Israeli population. Therefore, Hex A deficiency seems to be a very unlikely cause of an ALS‐mimic syndrome. Muscle Nerve 28: 109–112, 2003