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West-Central African Ancestry of the Repeat-Expansion Founder Mutation on the JPH3 Gene in Mexican Patients With Huntington's Disease-Like 2.

Archives of medical research - 1 Jul 2025

Ramírez-García Miguel Ángel, Yescas-Gómez Petra, Monroy-González Julio César Misael, Villarreal-Molina María Teresa, Díaz-Barba Karina, Macias-Kauffer Luis Rodrigo, Castañeda-López Gabriela, Romero-Hidalgo Sandra

Abstract excerpt

BACKGROUND: A trinucleotide repeat expansion of the JPH3 gene causes Huntington disease-like 2 (HDL2), clinically indistinguishable from Huntington's disease and is considered a disease unique to African and Afro-descendant populations. We identified five HDL2 families from the Costa Chica region of southern Pacific Mexico. Because the Mexican population is admixed, we aimed to determine the ancestral origin of...

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Identifiers

PMID: 40187026
DOI: 10.1016/j.arcmed.2025.103208

Genes

JPH3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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