Literature DB >> 29853295

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

Ruth H Walker1, Emilia M Gatto2, M Leonor Bustamante3, Oscar Bernal-Pacheco4, Francisco Cardoso5, Raphael M Castilhos6, Pedro Chana-Cuevas7, Mario Cornejo-Olivas8, Ingrid Estrada-Bellmann9, Laura B Jardim10, Ricardo López-Castellanos11, Ricardo López-Contreras12, Debora P Maia5, Pilar Mazzetti8, Marcelo Miranda13, Mayela Rodríguez-Violante14, Helio Teive15, Vitor Tumas16.   

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.
Copyright © 2018. Published by Elsevier Ltd.

Entities:  

Keywords:  Chorea-acanthocytosis; Genetics; HDL2; Huntington disease; Spinocerebellar ataxia

Mesh:

Year:  2018        PMID: 29853295     DOI: 10.1016/j.parkreldis.2018.05.021

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  7 in total

Review 1.  XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.

Authors:  Kevin Peikert; Andreas Hermann; Adrian Danek
Journal:  Transfus Med Hemother       Date:  2022-01-25       Impact factor: 3.747

2.  Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

Authors:  Têmis Maria Félix; Bibiana Mello de Oliveira; Milena Artifon; Isabelle Carvalho; Filipe Andrade Bernardi; Ida V D Schwartz; Jonas A Saute; Victor E F Ferraz; Angelina X Acosta; Ney Boa Sorte; Domingos Alves
Journal:  Orphanet J Rare Dis       Date:  2022-02-24       Impact factor: 4.123

3.  Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.

Authors:  David G Anderson; Aline Ferreira-Correia; Filipe B Rodrigues; N Ahmad Aziz; Jonathan Carr; Edward J Wild; Russell L Margolis; Amanda Krause
Journal:  Mov Disord Clin Pract       Date:  2019-03-12

Review 4.  Genetics and genomics in Peru: Clinical and research perspective.

Authors:  Heinner Guio; Julio A Poterico; Kelly S Levano; Mario Cornejo-Olivas; Pilar Mazzetti; Gioconda Manassero-Morales; Manuel F Ugarte-Gil; Eduardo Acevedo-Vásquez; Milagros Dueñas-Roque; Alejandro Piscoya; Ricardo Fujita; Cesar Sanchez; Sandro Casavilca-Zambrano; Luis Jaramillo-Valverde; Yasser Sullcahuaman-Allende; Juan M Iglesias-Pedraz; Hugo Abarca-Barriga
Journal:  Mol Genet Genomic Med       Date:  2018-11       Impact factor: 2.183

5.  A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

Authors:  Federica Ruscitti; Paola Origone; Giulia Rosti; Lucia Trevisan; Roberta Marchese; Andrea Brugnolo; Federico Massa; Paola Castellini; Paola Mandich
Journal:  Clin Case Rep       Date:  2022-10-06

6.  C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis.

Authors:  Carlos Alva-Diaz; Christoper A Alarcon-Ruiz; Kevin Pacheco-Barrios; Nicanor Mori; Josmel Pacheco-Mendoza; Bryan J Traynor; Andrea Rivera-Valdivia; Pongtawat Lertwilaiwittaya; Thomas D Bird; Mario Cornejo-Olivas
Journal:  Front Genet       Date:  2020-11-02       Impact factor: 4.599

Review 7.  Review of Hereditary and Acquired Rare Choreas.

Authors:  Daniel Martinez-Ramirez; Ruth H Walker; Mayela Rodríguez-Violante; Emilia M Gatto
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-08-06
  7 in total

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