RT Journal Article
SR Electronic
T1 Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 934
OP 940
DO 10.1136/jnnp.43.10.934
VO 43
IS 10
A1 S Franceschetti
A1 G Uziel
A1 S Di Donato
A1 L Caimi
A1 G Avanzini
YR 1980
UL http://jnnp.bmj.com/content/43/10/934.abstract
AB A 22 year old patient with non-familial progressive myoclonus, macular cherry-red spot, moderate cerebellar syndrome and normal intelligence is described. The myoclonus began at the age of 18 years. Focal myoclonus could easily be elicited by voluntary and passive movements, and by touch and electrical stimulation of median nerve. Somatosensory evoked potentials showed a high voltage early component. Jerk-locked averaging of the EEG preceding action myoclonus detected an otherwise hidden, time-related, EEG spike. The myoclonus responded partially but clearly to L-5 hydroxytryptophan plus carbidopa treatment. Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III.