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Huntington's disease-like 2 in Brazil--report of 4 patients

Guilherme G Riccioppo Rodrigues1, Ruth H Walker, Alexis Brice

  • 1Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil.

Movement Disorders : Official Journal of the Movement Disorder Society
|September 26, 2008
PubMed

Insights

Huntington's disease-like 2 (HDL2) is a rare neurodegenerative disorder. Caused by JPH3 gene mutations, HDL2 mimics Huntington's disease and should be considered in patients with similar symptoms, regardless of ancestry.

Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases

Background:

  • Huntington's disease-like 2 (HDL2) presents clinically similarly to Huntington's disease (HD).
  • HDL2 is a genetic disorder caused by expanded CAG/CTG repeats in the JPH3 gene.

Observation:

  • This study details four unrelated cases of HDL2.
  • Clinical, radiological, and neuropathological features resemble those of HD.

Findings:

  • HDL2 is caused by a specific genetic mutation in the JPH3 gene.
  • The disorder is primarily observed in individuals of African ancestry.

Implications:

  • Consider HDL2 in patients with HD-like phenotypes who test negative for the HD mutation.
  • Diagnostic considerations for HDL2 should extend beyond apparent African ancestry.

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