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Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.
  1. A Sánchez,
  2. S Castellví-Bel,
  3. M Milà,
  4. D Genis,
  5. M Calopa,
  6. D Jiménez,
  7. X Estivill
  1. Genetics Service, Hospital Clínic, Barcelona, Spain.


    Huntington's disease is a neuropsychiatric disorder with late age of onset, caused by an elongation of a (CAG)n repeat in the IT15 gene. This trinucleotide repeat has been studied by polymerase chain reaction amplification in 86 members of 43 Spanish families with Huntington's disease and in 60 unrelated subjects from the general population. The number of (CAG)n repeats in Huntington's disease chromosomes varied from 40 to 85, with 49 and 52 repeats being the most common, whereas in normal chromosomes it ranged from 12 to 32 with 20 (CAG)n repeats being the most frequent allele. In four patients with juvenile onset the number of (CAG)n repeats was greater than 50 and only one was of maternal transmission. There was a clear inverse correlation between the number of repeats and the age of onset of the disease. The study contributed to the diagnosis of 10 patients in whom the clinical diagnosis was uncertain, and identified 41 "at risk" patients after a previous psychological-psychiatric evaluation.

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