TY - JOUR
T1 - Huntington's disease-like disorders in Latin America and the Caribbean
AU - Walker, Ruth H.
AU - Gatto, Emilia M.
AU - Bustamante, M. Leonor
AU - Bernal-Pacheco, Oscar
AU - Cardoso, Francisco
AU - Castilhos, Raphael M.
AU - Chana-Cuevas, Pedro
AU - Cornejo-Olivas, Mario
AU - Estrada-Bellmann, Ingrid
AU - Jardim, Laura B.
AU - López-Castellanos, Ricardo
AU - López-Contreras, Ricardo
AU - Maia, Debora P.
AU - Mazzetti, Pilar
AU - Miranda, Marcelo
AU - Rodríguez-Violante, Mayela
AU - Teive, Helio
AU - Tumas, Vitor
N1 - Publisher Copyright:
© 2018
PY - 2018/8
Y1 - 2018/8
N2 - 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.
AB - 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.
KW - Chorea-acanthocytosis
KW - Genetics
KW - HDL2
KW - Huntington disease
KW - Spinocerebellar ataxia
UR - http://www.scopus.com/inward/record.url?scp=85047516440&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2018.05.021
DO - 10.1016/j.parkreldis.2018.05.021
M3 - Artículo de revisión
C2 - 29853295
AN - SCOPUS:85047516440
SN - 1353-8020
VL - 53
SP - 10
EP - 20
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -