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Huntington's Disease in Chile: Epidemiological and Genetic Aspects

Ernesto Solís-Añez1, Philippe A Salles2, Natalia Rojas3

  • 1School of Medicine, University of Talca, Talca, Chile.

Neuroepidemiology
|April 30, 2023
PubMed

Insights

This study characterizes Huntington's disease (HD) in Chile, revealing a minimum prevalence of 0.72 per 100,000 inhabitants and a mean CAG repeat expansion similar to North American reports. Findings highlight the genetic and clinical features of HD patients in the region.

Area of Science:

  • Neurogenetics
  • Neurology
  • Epidemiology

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG trinucleotide expansion in the HTT gene.
  • It presents with motor, psychiatric, and cognitive symptoms, significantly impacting patients and families.
  • Characterizing HD in specific populations is crucial for understanding disease prevalence and genetic factors.

Purpose of the Study:

  • To report on the genetic, sociodemographic, and neuropsychiatric features of Huntington's disease patients in Chile.
  • To establish the minimum prevalence of HD in Chile during the era of molecular diagnosis.
  • To analyze the correlation between CAG repeat expansion and age of onset in the Chilean HD cohort.

Main Methods:

  • Retrospective analysis of a prospective cohort of 103 Huntington's disease (HD) probands seen at the Center for Movement Disorders (CETRAM) in Chile (2013-2019).
  • Investigation of sociodemographic data, HTT gene CAG repeat numbers (CAGR), and neuropsychiatric features.
  • Pedigree analysis to identify affected relatives and individuals at genetic risk.

Main Results:

  • The minimum estimated prevalence of HD in Chile was 0.72 per 100,000 inhabitants in 2019.
  • The mean CAG repeat expansion (CAGR) was 47.2 ± 10.74 for the expanded allele and 17.93 ± 2.05 for the normal allele.
  • A significant negative correlation was found between age of onset and CAGR of the expanded allele (r = -0.84, p < 0.0001), with juvenile cases representing 7.8%.

Conclusions:

  • This is the first report detailing the genetics, motor, and neuropsychiatric characteristics of HD patients in Chile.
  • The mean CAGR expansion is comparable to North American reports and higher than in Argentina.
  • The minimal prevalence of HD in Chile may be lower than previously estimated, warranting further investigation.
Abstract

Keywords:
ChileChoreaDementiaDepressionGeneticsHuntington’s diseaseLatin AmericaNeurodegenerative diseasesNeuroepidemiology

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