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Huntington's disease-like disorders in Latin America and the Caribbean

  • Ruth H. Walker
    ,
  • Emilia M. Gatto
    ,
  • M. Leonor Bustamante
    ,
  • Oscar Bernal-Pacheco
    ,
  • Francisco Cardoso
    ,
  • Raphael M. Castilhos
  • Louis Stokes Cleveland Veterans Health Administration Medical Center
    ,
  • Icahn School of Medicine at Mount Sinai
    ,
  • INEBA
    ,
  • Facultad de Medicina de la Universidad de Chile
    ,
  • Universidad Militar Nueva Granada
    ,
  • Universidade Federal de Minas Gerais
Research Output:
Contribution to journal
Review article
Peer-review

Open access

Publication Information

Output type

Research Output:
Contribution to journal
Review article
Peer-review

Original language

English

Pages from-to (Number of pages)

Pages 10-20 (11 pages)

Journal (Volume, Issue Number)

Parkinsonism and Related Disorders (Volume 53)

Publication milestones

  • Published - 08/2018

Publication status

Published - 08/2018

ISSN

1353-8020

Publication IDs

  • Scopus: 85047516440
  • PubMed: 29853295

Abstract

Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for Huntington's disease (HD) becomes more available in previously resource-limited regions, it is becoming apparent that there are patients in these areas with other rare genetic conditions which cause an HD-like phenotype. Documentation of the presence of these conditions is important in order to provide appropriate diagnostic and clinical care for these populations. Information for this article was gathered in two ways; the literature was surveyed for publications reporting a variety of genetic choreic disorders, and movement disorders specialists from countries in Latin America and the Caribbean were contacted regarding their experiences with chorea of genetic etiology. Here we discuss the availability of molecular diagnostics for HD and for other choreic disorders, along with a summary of the published reports of affected subjects, and authors’ personal experiences from the regions. While rare, patients affected by non-HD genetic choreas are evidently present in Latin America and the Caribbean. HD-like 2 is particularly prevalent in countries where the population has African ancestry. The incidence of other conditions is likely determined by other variations in ethnic background and settlement patterns. As genetic resources and awareness of these disorders improve, more patients are likely to be identified, and have the potential to benefit from education, support, and ultimately molecular therapies.

Funding Details

VT has received honoraria from Roche and research funding from FAPESP (Brazil).
FundersFunding numbers
Roche
-
FAPESP
-

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