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Article

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2015

Ramos Eliana Marisa, Gillis Tammy, Mysore Jayalakshmi S, Lee Jong-Min, Gögele Martin, D'Elia Yuri, Pichler Irene, Sequeiros Jorge, Pramstaller Peter P, Gusella James F, MacDonald Marcy E, Alonso Isabel

Abstract excerpt

Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, cognitive impairment, and behavioral changes, caused by the expansion of an unstable CAG repeat in HTT. We characterized the genetic diversity of the HD mutation by performing an extensive haplotype analysis of ∼1Mb region flanking HTT in over 300 HD families of Portuguese origin. We observed that haplotype...

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Identifiers

PMID: 25656686
DOI: 10.1002/ajmg.b.32289
PMCID: PMC5006842

Genes

HTT

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Source receipt: pubmed, retrieved 7 Sept 2026.

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