[Hexosaminidase deficiency as differential spinocerebellar diseases].
Tay-Sachs disease is caused by Hexosaminidase A deficiency. Symptoms of the enzyme deficiency rarely become clinically manifest in adult age; then the course of the disease differs in a wide range. We report on a patient with cerebellar ataxia and lower motor neuron disease. Neurophysiological investigations, neuro-imaging (CT, MRI), and muscle biopsy reveal pathological but nonspecific findings. Determination of hexosaminidase A and B activities leads to the diagnosis. In patients with spinocerebellar ataxia hexosaminidase deficiency has to be considered as a differential diagnosis.
Förster
A
A
Neurologische Abteilung am Krankenhaus Rummelsberg, Schwarzenbruck.
Heuss
D
D
Claus
D
D
D000328:Adult; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D054818:Hexosaminidase A; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency* / Q000235:genetics
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases