Article

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia

2023-07-11

Abstract excerpt

<h4>Background: </h4> The second world's most extensive cluster of patients affected with Huntington’s disease (HD), a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin ( HTT) gene, inhabits Juan de Acosta, a city located on the Caribbean coast of Colombia. This group represents the second most extensive pedigree clustering HD in the world. Methods We included 291 descendants of families...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 60f15e2c-b84f-53ef-bd98-df911362b2f8
DOI: 10.21203/rs.3.rs-3139939/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern ColombiaDOI 10.21203/rs.3.rs-3139939/v1Read

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia.Semantic proximity Read

Incidence of Huntington disease in a northeastern Spanish region: A 13-year retrospective study at tertiary care centreSemantic proximity Read

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s DiseaseSemantic proximity Read

A systematic review of the intergenerational aspects and the diverse genetic profiles of Huntington's disease.Semantic proximity Read

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.Semantic proximity Read

Epidemiology of Huntington disease.Semantic proximity Read

[Huntington´s disease - overview].Semantic proximity Read

Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.Semantic proximity Read

Beyond CAG Repeats: The Multifaceted Role of Genetics in Huntington DiseaseSemantic proximity Read

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.Semantic proximity Read

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.Semantic proximity Read

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.Semantic proximity Read