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N ‐acetyl‐β‐hexosaminidase β locus defect and juvenile motor neuron disease: A case study
Author(s) -
Cashman Neil R.,
Antel Jack P.,
Hancock Larry W.,
Dawson Glyn,
Horwitz Allen L.,
Johnson William G.,
Huttenlocher Peter R.,
Wollmann Robert L.
Publication year - 1986
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.410190608
Subject(s) - fasciculation , motor neuron , hexosaminidase , pathology , medicine , ganglion , neurodegeneration , disease , neuroscience , psychology , biology , anatomy , biochemistry , enzyme
A patient with partial deficiency of N ‐acetyl‐ß‐hexosaminidase (Hex) developed a progressive motor neuron syndrome beginning at age 7, characterized by dysarthria, muscle wasting, fasciculations, and pyramidal tract dysfunction. Minor clinical features have included tremor and late distal sensory abnormalities. Rectal biopsy at age 24 demonstrated membranous cytoplasmic bodies in submucosal ganglion cells. Biochemical evaluation revealed nearly absent Hex B activity in serum, leukocytes, and fibroblasts, with partial Hex A activity in serum and leukocytes, and low normal Hex A activity in fibroblasts. Motor neuron disease can be a presentation of a Hex ß locus defect, in addition to the previously recognized Hex α locus defects.