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

Guilherme G.Riccioppo Rodrigues, Ruth H. Walker, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Helio A.G. Teive, Renato Puppi Munhoz, Nilson Becker, Salmo Raskin, Lineu Cesar Werneck, Wilson Marques, Vitor Tumas

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Huntington's disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD-like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.

Original languageEnglish
Pages (from-to)2244-2247
Number of pages4
JournalMovement Disorders
Volume23
Issue number15
DOIs
StatePublished - 15 Nov 2008

Keywords

  • Huntington's disease
  • Huntington's disease like
  • Junctophilin 3

Fingerprint

Dive into the research topics of 'Huntington's disease-like 2 in Brazil - Report of 4 patients'. Together they form a unique fingerprint.

Cite this