title: Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
abstract: Proximal lower limb weakness and fasciculations were the only clinical manifestations of hexosaminidase A (Hex A) deficiency in a 39-year-old woman. Hex A activity in serum and leukocytes was 0 to 4% by standard heat inactivation fluorogenic substrate methods, and 5% when Hex A isoenzymes were fractionated by diethylaminoethanol cellulose chromatography. Computed tomography of the brain showed cerebellar atrophy. We suggest that Hex A activity studies be done in patients with typical as well as atypical spinal muscular atrophy.
authors.affiliation: Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Karni
authors.forename: R
authors.initials: R
authors.lastname: Navon
authors.forename: M
authors.initials: M
authors.lastname: Sadeh
mesh_terms: D000328:Adult; D005260:Female; D054818:Hexosaminidase A; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D007962:Leukocytes / Q000201:enzymology; D009132:Muscles / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D012016:Reference Values; D001619:beta-N-Acetylhexosaminidases / Q000097:blood / Q000172:deficiency*
chemical_list: D007527:Isoenzymes; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases