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Article

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Neurology - 28 Apr 2015

Santens Patrick, Van Damme Tim, Steyaert Wouter, Willaert Andy, Sablonnière Bernard, De Paepe Anne, Coucke Paul J, Dermaut Bart

Abstract excerpt

OBJECTIVE: To identify the genetic cause in 2 Belgian families with autosomal recessive Huntington-like disorder (HDL). METHODS: Homozygosity mapping and whole-exome sequencing in a consanguineous family as well as Sanger sequencing of the candidate gene in an independent family with HDL followed by genotype-phenotype correlation studies. RESULTS: We identified a homozygous mutation in the gene RNF216...

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PMID: 25841028
DOI: 10.1212/WNL.0000000000001521

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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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