## Abstract 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 off
Cortical myoclonus in childhood and juvenile onset Huntington's disease
β Scribed by Davide Rossi Sebastiano; Paola Soliveri; Ferruccio Panzica; Isabella Moroni; Cinzia Gellera; Isabella Gilioli; Nardo Nardocci; Claudia Ciano; Alberto Albanese; Silvana Franceschetti; Laura Canafoglia
- Book ID
- 116821210
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 420 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1353-8020
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## Abstract Seven HD gene positive individuals under the age of 21 years are described with clinical examination and protonβMRβspectroscopy (^1^HβMRS) profiles of the putamen. Despite clinical variability, the predominate ^1^HβMRS abnormality is elevated glutamate, expressed well beyond the confine
## Abstract Huntington's disease (HD) is an inherited neurodegenerative disorder. The mutation which causes the disease is an expansion in the number of repetitions of three nucleotides, C, A, and G in exon 1 of the huntingtin gene. The gene normally has 15 to 30 repeats and an expansion to 40 or m
We report the electrophysiologic findings of myoclonus in a patient with Huntington's disease (HD). This patient was studied postoperatively after a bilateral fetal cell transplant in his striatum. Incomplete transient improvement was seen in the myoclonus, followed by gradual deterioration. The myo