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Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive

Yaimeé Vázquez-Mojena1, Leonides Laguna-Salvia, José M Laffita-Mesa

  • 1Centre for Research and Rehabilitation of Hereditary Ataxias (CIRAH), Holguín, Cuba.

Journal of the Neurological Sciences
|September 24, 2013
PubMed

Insights

Huntington disease (HD) molecular epidemiology in Cuba reveals pathological CAG expansions in 83% of affected individuals from the eastern region. This study provides crucial data for diagnosis and genetic testing in the Cuban population.

Area of Science:

  • Neurogenetics
  • Molecular Epidemiology
  • Polyglutamine Disorders

Background:

  • Huntington disease (HD) is the most common polyglutamine disorder, but its prevalence in Cuba is unknown.
  • Previous studies have explored HD in other Latin American populations, highlighting the need for Cuban-specific data.

Purpose of the Study:

  • To determine the relative frequency and molecular epidemiology of Huntington disease in the Cuban population.
  • To characterize the genetic basis of HD in Cuban patients, focusing on CAG repeat expansions in the HTT gene.

Main Methods:

  • Genotyping of 130 patients with chorea and 63 healthy controls for CAG repeat numbers in the HTT gene.
  • Analysis of molecular data to identify pathological expansions and intermediate alleles.
  • Correlation analysis between age at onset and CAG repeat length.

Main Results:

  • Sixty-two patients (47.7%) from 16 families carried pathological CAG expansions (39-67 repeats) in the HTT gene.
  • Eighty-three percent of affected individuals with expansions originated from eastern Cuba.
  • A significant inverse correlation was observed between age at onset and the number of CAG repeats.
  • Intermediate alleles were found in 4.8% of affected individuals and 3.97% of controls, suggesting a source for de novo mutations.

Conclusions:

  • This study provides the largest molecular characterization of Huntington disease in Cuba to date.
  • Findings have implications for understanding HD, improving diagnosis, and guiding prognosis for Cuban patients.
  • Results equip healthcare professionals with tools for confirmatory genetic testing, pre-symptomatic testing, and clinical trial implementation in Cuba.

Keywords:
CAG repeatsChoreaEpidemiologyHTT geneHuntington's diseaseIntermediate allelesMolecular testingNeurodegenerative disease

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