title: [Huntington disease: clinical and genetic study in a Spanish population].
abstract: Clinical and genetic data of 18 unrelated patients diagnosed of Huntington's disease were studied. We examined age of onset, form of presentation, years of evolution and scores on the Shoulson-Fahn function scale, the Myers disability scale and the mini-mental state examination. The 3 clinical parameters show a linear correlation with years of disease duration. The mini-mental test was most sensitive to progression and was most closely correlated (r = 0.75, p = 0.001). Molecular analysis of the IT15 gene for all 18 patients and 96 control chromosome was performed; the range of CAG repeats was 9-29 for controls and 36-69 for patients. The correlation decreased exponentially with age of onset of symptoms and number of CAG repeats.
authors.affiliation: Servicio de Neurología, Hospital Universitario La Fe, Valencia.
authors.forename: M P
authors.initials: MP
authors.lastname: Solís Pérez
authors.forename: F
authors.initials: F
authors.lastname: Palau Martínez
authors.forename: J A
authors.initials: JA
authors.lastname: Burguera Hernández
authors.forename: A
authors.initials: A
authors.lastname: Salazar Cifré
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology; D005260:Female; D005784:Gene Amplification; D006801:Humans; D006816:Huntington Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D009483:Neuropsychological Tests; D012720:Severity of Illness Index; D013030:Spain
vernacular_title: Enfermedad de Huntington: estudio clínico y genético en una población española.