Abstract
The cherry red spotmyoclonus syndrome has been reported in at least 11 individuals in the past 20 years. The symptoms usually have their onset in the second decade of life and include macular cherry-red spots, myoclonus and increased deep tendon reflexes and no dementia. Recently neuraminidase deficiency has been documented in some of these patients. This report is of a.31 year old male with macular cherry-red spots, hyperreflexia and myoclonus (tremors and sudden quick jerks of both hands) without dementia. An older brother who had progressive myoclonus died at age 33 with myoclonic seizures. Homogenates of cultured fibroblasts from the proband exhibited a marked deficiency of neuraminidase activity. The neuraminidase activities in fibroblasts from the proband's parents and in two children of the proband were in the intermediate range. The cherry red spot-myoclonus syndrome is clinically distinct from Mucolipidosis I in which neuraminidase deficiency has also been reported.
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