Article

N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.

Annals of Neurology (impact factor: 11.09). 07/1986; 19(6):568-72. DOI:10.1002/ana.410190608 pp.568-72
Source: PubMed

ABSTRACT A patient with partial deficiency of N-acetyl-beta-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 beta locus defect, in addition to the previously recognized Hex alpha locus defects.

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Keywords

age 7
 
Biochemical evaluation
 
distal sensory abnormalities
 
Hex
 
Hex B activity
 
Hex beta locus
 
low normal Hex
 
membranous cytoplasmic bodies
 
Minor clinical features
 
Motor neuron disease
 
muscle wasting
 
N-acetyl-beta-hexosaminidase
 
partial deficiency
 
partial Hex
 
progressive motor neuron syndrome
 
recognized Hex alpha locus defects