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Article

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.

Developmental medicine and child neurology - 1 Jan 2021

Sasaki Masayuki, Sumitomo Noriko, Shimizu-Motohashi Yuko, Takeshita Eri, Kurosawa Kenji, Kosaki Kenjiro, Iwama Kazuhiro, Mizuguchi Takeshi, Matsumoto Naomichi

Abstract excerpt

A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases of infantile-onset cerebellar ataxia, due to two different ATP1A3 variants. Both patients showed slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms. Brain magnetic resonance imaging revealed mild cerebellar cortical atrophy in both patients. Whole...

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Identifiers

PMID: 32895939
DOI: 10.1111/dmcn.14666
PMCID: PMC7754140

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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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