Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.

@article{Thomas1979SialidosisT1,
  title={Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.},
  author={Professor P. K. Thomas and Jackie Abrams and Dallas M Swallow and Grant Stewart},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={1979},
  volume={42 10},
  pages={
          873-80
        }
}
A family is described with three affected brothers, two of whom were examined, born to consanguineous parent, who in early adult life began to experience ataxia, intention myoclonus, and progressive visual failure. The brothers examined had cherry red spots at the maculae and cataracts. They were of normal intelligence. The intention myoclonus responded partially to treatment with clonazepam and pheneturide, but not to 5-hydroxytryptophan in combination with carbidopa or to sodium valproate… CONTINUE READING

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