Article
Early onset Huntington disease: a neuronal degeneration syndrome.
European journal of pediatrics - 1 Dec 2004
Seneca Sara, Fagnart Domique, Keymolen Kathelijn, Lissens Willy, Hasaerts Daniele, Debulpaep Sara, Desprechins Brigitte, Liebaers Inge, De Meirleir Linda
Abstract excerpt
UNLABELLED: Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20 years of age. In adults, HD is mainly characterised by...
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