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Article

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Molecular neurobiology - 1 Jul 2017

Tell-Marti Gemma, Puig-Butille Joan Anton, Gimenez-Xavier Pol, Segu-Roig Ariadna, Potrony Miriam, Badenas Celia, Alvarez Victoria, Millán José M, Trujillo-Tiebas María José, Ramos-Arroyo María A, Milà Montserrat, Puig Susana

Abstract excerpt

The expansion of CAG repeats (≥36 CAG) in the HTT gene is the only known genetic cause of Huntington's disease (HD) and the main determinant of the course of the disease. The length of the expanded CAG repeats correlates inversely with the age of onset (AOO) but does not completely determine it. We investigated the role of the melanocortin 1 receptor (MC1R) gene as a modifier factor of AOO in 600 HD patients from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 27924526
DOI: 10.1007/s12035-016-0305-5

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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