title: [From gene to disease; HD gene and Huntington disease].
abstract: Huntington's disease (HD) is a late onset, incurable, autosomal dominantly-inherited, progressive neuropsychiatric disease, characterised by chorea, changes in personality, mood and behaviour, and dementia. Huntington's disease is a clinical diagnosis. The advent of DNA diagnosis has made predictive, prenatal and preimplantation testing possible for at-risk persons or asymptomatic carriers. The prevalence is estimated to be 3-10/100,000 among individuals of European descent; HD is less common in other ethnic groups. Huntington's disease is caused by an expanded trinucleotide CAG repeat in the HD gene on chromosome 4. The gene encodes for the protein huntingtin, with an as yet unknown function. The mutated huntingtin has an elongated stretch of glutamines which leads to a gain of function such as overactivity, excitotoxicity, or to interactions with other proteins.
authors.affiliation: Erasmus Universitair Medisch Centrum, afd. Klinische Genetica, Westzeedijk 112, 3016 AH Rotterdam. maat@kgen.azr.nl
authors.forename: J A
authors.initials: JA
authors.lastname: Maat-Kievit
authors.forename: M
authors.initials: M
authors.lastname: Losekoot
authors.forename: R A
authors.initials: RA
authors.lastname: Roos
mesh_terms: D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005060:Europe / Q000453:epidemiology; D005820:Genetic Testing / Q000523:psychology; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins