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Article

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.

European journal of neurology - 1 Jan 2022

Van Daele Sien H, Moisse Matthieu, Race Valérie, Van Eesbeeck Amélie, Keldermans Liesbeth, Vermeer Sascha, Van Esch Hilde, Claeys Kristl G, Van Damme Philip

Abstract excerpt

BACKGROUND: Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues can sometimes incriminate certain genes. This can trigger genetic testing in sporadic patients or prompt dissecting certain genes more thoroughly when initial genetic testing is negative. Also for the assembly of gene panels and interpretation of the results, genotype-phenotype...

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Identifiers

PMID: 34469621
DOI: 10.1111/ene.15091
PMCID: PMC9290118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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