Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review
Abstract Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Rece...
Main Authors: | , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2021-09-01
|
Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1772 |
id |
doaj-f8029d5ce666483fbc8966ea877d1576 |
---|---|
record_format |
Article |
spelling |
doaj-f8029d5ce666483fbc8966ea877d15762021-09-22T19:17:39ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-09-0199n/an/a10.1002/mgg3.1772Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature reviewMateusz Biela0Malgorzata Rydzanicz1Krystyna Szymanska2Karolina Pieniawska‐Smiech3Aleksandra Lewandowicz‐Uszynska4Joanna Chruszcz5Lucyna Benben6Malgorzata Kuzior‐Plawiak7Pawel Szyld8Aleksandra Jakubiak9Leszek Szenborn10Rafal Ploski11Robert Smigiel12Department of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wrocław PolandDepartment of Medical Genetics Medical University of Warsaw Warsaw PolandDepartment of Experimental and Clinical Neuropathology Mossakowski Medical Research Centre Polish Academy of Sciences Warsaw PolandDepartment of Clinical Immunology Wroclaw Medical University Wroclaw PolandThird Department and Clinic of Pediatrics, Immunology and Rheumatology of Developmental Age Wroclaw Medical University Wroclaw PolandDepartment of Paediatrics and Infectious Diseases Wroclaw Medical University Wroclaw PolandDepartment of Paediatric Neurology J. Gromkowski Regional Specialist Hospital Wrocław PolandDepartment of Paediatric Neurology J. Gromkowski Regional Specialist Hospital Wrocław PolandCancer Genetics Unit Cancer Prevention Department The Maria Sklodowska‐Curie National Research Institute of Oncology Warsaw PolandDepartment of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wrocław PolandDepartment of Paediatrics and Infectious Diseases Wroclaw Medical University Wroclaw PolandDepartment of Medical Genetics Medical University of Warsaw Warsaw PolandDepartment of Pediatrics Division Pediatric Propedeutics and Rare Disorders Wroclaw Medical University Wrocław PolandAbstract Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype–phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756—two acronyms are proposed for the moment—FIPWE (fever‐induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia). Materials and Methods Herein, we are describing two new pediatric cases with a p.Arg756His change in the ATP1A3 gene. Both patients have had more than one episode of a neurological decompensation triggered by fever with severe hypotonia and followed by ataxia. Thirty‐three cases from literature were analyzed to define and strengthen the genotype‐phenotype correlation of variants located in residue 756 (p.Arg756His, p.Arg756Cys, p.Arg756Leu). Conclusions Patients with a ATP1A3 variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements.https://doi.org/10.1002/mgg3.1772ATP1A3cerebellar ataxiahypotoniarelapsing encephalopathywhole‐exome sequencing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mateusz Biela Malgorzata Rydzanicz Krystyna Szymanska Karolina Pieniawska‐Smiech Aleksandra Lewandowicz‐Uszynska Joanna Chruszcz Lucyna Benben Malgorzata Kuzior‐Plawiak Pawel Szyld Aleksandra Jakubiak Leszek Szenborn Rafal Ploski Robert Smigiel |
spellingShingle |
Mateusz Biela Malgorzata Rydzanicz Krystyna Szymanska Karolina Pieniawska‐Smiech Aleksandra Lewandowicz‐Uszynska Joanna Chruszcz Lucyna Benben Malgorzata Kuzior‐Plawiak Pawel Szyld Aleksandra Jakubiak Leszek Szenborn Rafal Ploski Robert Smigiel Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review Molecular Genetics & Genomic Medicine ATP1A3 cerebellar ataxia hypotonia relapsing encephalopathy whole‐exome sequencing |
author_facet |
Mateusz Biela Malgorzata Rydzanicz Krystyna Szymanska Karolina Pieniawska‐Smiech Aleksandra Lewandowicz‐Uszynska Joanna Chruszcz Lucyna Benben Malgorzata Kuzior‐Plawiak Pawel Szyld Aleksandra Jakubiak Leszek Szenborn Rafal Ploski Robert Smigiel |
author_sort |
Mateusz Biela |
title |
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review |
title_short |
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review |
title_full |
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review |
title_fullStr |
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review |
title_full_unstemmed |
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review |
title_sort |
variants of atp1a3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (reca)—report of two cases and literature review |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2021-09-01 |
description |
Abstract Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype–phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756—two acronyms are proposed for the moment—FIPWE (fever‐induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia). Materials and Methods Herein, we are describing two new pediatric cases with a p.Arg756His change in the ATP1A3 gene. Both patients have had more than one episode of a neurological decompensation triggered by fever with severe hypotonia and followed by ataxia. Thirty‐three cases from literature were analyzed to define and strengthen the genotype‐phenotype correlation of variants located in residue 756 (p.Arg756His, p.Arg756Cys, p.Arg756Leu). Conclusions Patients with a ATP1A3 variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements. |
topic |
ATP1A3 cerebellar ataxia hypotonia relapsing encephalopathy whole‐exome sequencing |
url |
https://doi.org/10.1002/mgg3.1772 |
work_keys_str_mv |
AT mateuszbiela variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT malgorzatarydzanicz variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT krystynaszymanska variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT karolinapieniawskasmiech variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT aleksandralewandowiczuszynska variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT joannachruszcz variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT lucynabenben variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT malgorzatakuziorplawiak variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT pawelszyld variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT aleksandrajakubiak variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT leszekszenborn variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT rafalploski variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview AT robertsmigiel variantsofatp1a3inresidue756causeaseparatephenotypeofrelapsingencephalopathywithcerebellarataxiarecareportoftwocasesandliteraturereview |
_version_ |
1717371271404060672 |