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Hexosaminidase a deficiency manifesting as spinal muscular atrophy of late onset
Author(s) -
Karni Avi,
Navon Ruth,
Sadeh Menachem
Publication year - 1988
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410240316
Subject(s) - fasciculation , hexosaminidase , spinal muscular atrophy , atrophy , weakness , medicine , pathology , endocrinology , anatomy , chemistry , enzyme , biochemistry , disease
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 diethyl‐aminoethanol 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 a typical spinal muscular atrophy.