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Huntington's disease in Greece: the experience of 14 years

M Panas1, G Karadima, E Vassos

  • 1Department of Neurology, Eginition Hospital, University of Athens, Athens, Greece. mpanas@med.uoa.gr

Clinical Genetics
|December 21, 2010
PubMed

Insights

This study estimated Huntington's disease (HD) prevalence in Greece, finding rates similar to other European countries. Genetic testing confirmed HD in most symptomatic individuals, but family history alone was an unreliable indicator.

Area of Science:

  • Genetics
  • Epidemiology
  • Neurology

Background:

  • Huntington's disease (HD) is a progressive neurodegenerative disorder.
  • Understanding HD prevalence and genetic factors is crucial for public health.
  • Greece's relative genetic isolation presents a unique context for HD research.

Purpose of the Study:

  • To conduct a large-scale genetic and epidemiological study of Huntington's disease in Greece.
  • To estimate the prevalence and incidence of HD in the Greek population.
  • To analyze diagnostic testing outcomes, including false-positive cases and predictive testing uptake.

Main Methods:

  • Conducted diagnostic and presymptomatic genetic testing for Huntington's disease (HD) from 1995 to 2008.
  • Analyzed 461 symptomatic and 256 presymptomatic individuals for CAG expansion.
  • Calculated prevalence and incidence rates and assessed the accuracy of family history in diagnosis.

Main Results:

  • Confirmed HD diagnosis in 278 symptomatic individuals with CAG expansion ≥ 36.
  • Estimated HD prevalence at 2.5–5.4:100,000 and incidence at 2.2–4.4 per million per year.
  • Identified 15.6% false-positive cases, often lacking family history and presenting atypically; predictive testing uptake was 8.6%.

Conclusions:

  • Greek HD prevalence and incidence align with other European populations, despite genetic isolation.
  • Family history should be interpreted cautiously in HD diagnosis due to potential inaccuracies.
  • Identified HD clusters within Greece warrant further investigation.

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