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Article

A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.

Annals of clinical and translational neurology - 1 May 2020

Chen Ke-Liang, Zhao Gui-Xian, Wang He, Wei Lei, Huang Yu-Yuan, Chen Shi-Dong, Lin Bi-Ying, Dong Qiang, Cui Mei, Yu Jin-Tai

Abstract excerpt

Mutations in RNF216 have been found to be associated with autosomal recessive Huntington-like disorder. Here, we describe a patient with Huntington-like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face, and four extremities, with prominent cognitive deterioration. White matter lesions in cerebral hemispheres and...

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PMID: 32358900
DOI: 10.1002/acn3.51047
PMCID: PMC7261743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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