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We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.

Original publication

DOI

10.1002/mds.870090609

Type

Journal

Mov Disord

Publication Date

11/1994

Volume

9

Pages

633 - 641

Keywords

Adult, Alleles, Cerebral Cortex, DNA, Electroencephalography, Electromyography, Evoked Potentials, Somatosensory, Female, Humans, Huntington Disease, Male, Myoclonus, Neurologic Examination, Pedigree, Polymerase Chain Reaction, Reflex