Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10395470" target="_blank" >RIV/00064165:_____/19:10395470 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/19:10395470

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=u-ltHWWoFz" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=u-ltHWWoFz</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ejpn.2019.02.004" target="_blank" >10.1016/j.ejpn.2019.02.004</a>

Result language

angličtina

Original language name

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

Original language description

Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Most of them had no specific history when the first neurological decompensation episode occurred, before the age of 5 years, triggered by fever with severe paralytic hypotonia followed by ataxia with or without abnormal movements. Neurological sequelae with ataxia as the predominant symptom were present after the first episode in three cases and after at least one subsequent relapse in five cases. Five of the eight cases had a familial involvement with one of the two parents affected. The phenotype genotype correlation is unequivocal with the causal substitution always located at position 756. The pathophysiology of the dysfunctions of the mutated ATPase pump, triggered by fever is unknown. Severe recurrent neurological decompensation episodes triggered by fever, without any metabolic cause, should lead to the sequencing of ATP1A3. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

European Journal of Paediatric Neurology

ISSN

1090-3798

e-ISSN

—

Volume of the periodical

23

Issue of the periodical within the volume

3

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

448-455

UT code for WoS article

000472588200015

EID of the result in the Scopus database

2-s2.0-85062648405