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Peripheral neuropathy in the cherry‐red spot—myoclonus syndrome (Sialidosis type I)
Author(s) -
Steinman L.,
Tharp B. R.,
Dorfman L. J.,
Forno L. S.,
Sogg R. L.,
Kelts K. A.,
O'Brien J. S.
Publication year - 1980
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.410070510
Subject(s) - myoclonus , peripheral neuropathy , peripheral , polyneuropathy , medicine , pathology , progressive myoclonus epilepsy , biology , neuroscience , endocrinology , diabetes mellitus
A patient with the cherry‐red spot‐myoclonus syndrome associated with autosomal recessive deficiency of lysosomal neuraminidase was found to have clinical, electrophysiological, and morphological evidence of a sensorimotor peripheral polyneuropathy with distinctive inclusions in the cytoplasm of Schwann cells.
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