" /> Huntington disease - CISMeF





Preferred Label : Huntington disease;

Symbol : HD;

CISMeF acronym : HD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Huntington chorea;

Description : Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CAG)n in the huntingtin gene (HTT, 613004.0001);

Prefixed ID : #143100;

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27/07/2025


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