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Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease

Abstract

Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in an attempt to obtain information for genetic counselling and differential diagnosis. Our results indicate that individuals with more than 40 repeats will be affected by the disease, whereas those with fewer than 30 will be healthy. There can be some overlap between 30 and 40 repeats, and one should be careful when interpreting these results.

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Benitez, J., Fernandez, E., Ruiz, P.G. et al. Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease. Hum Genet 94, 563–564 (1994). https://doi.org/10.1007/BF00211028

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Keywords

  • Internal Medicine
  • Differential Diagnosis
  • Metabolic Disease
  • Genetic Counselling
  • Hereditary Disease