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Article

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Brain : a journal of neurology - 1 Jun 2017

Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra

Abstract excerpt

Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP,...

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Source

Identifiers

PMID: 28444220
DOI: 10.1093/brain/awx081

Genes

SPG7
ATXN1
ATXN2
ATXN3
ATXN7
ELOVL5
FGF14
ITPR1
KCNA1
KCNC3
KCND3
POLG
STUB1
TBP
TTBK2

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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