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Sporadic Huntington's disease in the Philippines: a case report

Laurence Kristoffer J Batino1, John Hiyadan1, Debbie Liquete1

  • 1Baguio General Hospital & Medical Center, Department of Neurosciences, Baguio City, Benguet, 2600, Philippines.

Neurodegenerative Disease Management
|November 17, 2021
PubMed

Insights

This case report details the first genetically confirmed sporadic Huntington's disease (HD) case in the Philippines. It underscores the importance of considering HD in Filipino patients presenting with adult-onset chorea.

Area of Science:

  • Neurogenetics
  • Neurology
  • Clinical Case Study

Background:

  • Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder.
  • HD is characterized by choreoathetosis, cognitive decline, and behavioral changes.
  • HD is uncommon in Asian populations, with only two prior genetically confirmed cases in the Philippines.

Observation:

  • A 39-year-old Filipino male presented with a decade of progressive behavioral changes, personality shifts, cognitive decline, and choreoathetotic movements.
  • Neuroimaging revealed caudate and putamen atrophy with a putaminal rim sign.
  • Genetic analysis identified 47 CAG trinucleotide repeats in the Huntingtin gene, with no family history of the disease.

Findings:

  • The patient was diagnosed with sporadic Huntington's disease.
  • This represents the first genetically confirmed sporadic HD case and the third overall HD case reported in the Philippines.
  • The CAG repeat expansion confirms the diagnosis of Huntington's disease.

Implications:

  • This case highlights the necessity of including Huntington's disease in the differential diagnosis for adult-onset chorea in the Filipino population.
  • Despite its rarity, this finding expands the known geographical and genetic landscape of Huntington's disease.
  • Further research may be warranted to understand the prevalence and genetic factors of HD in the Philippines.

Keywords:
CAG repeatHuntington’s diseasechoreamovement disorderneurodegenerative disorderrare diseasestrinucleotide repeat

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