Expanding Phenotype of - Related Disorders: A Case Series

Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing lo...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Jelena De Vrieze MD, Ingrid M.B.H. van de Laar MD, PhD, Johanneke F. de Rijk-van Andel MD, PhD, Erik-Jan Kamsteeg MD, PhD, Irene A.W. Kotsopoulos MD, PhD, Stella A. de Man MD, PhD
Formato:	article
Lenguaje:	EN
Publicado:	SAGE Publishing 2021
Materias:	Pediatrics RJ1-570 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/d07d7dc9bd334c7088482ef36bd11350
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:d07d7dc9bd334c7088482ef36bd11350
record_format	dspace
spelling	oai:doaj.org-article:d07d7dc9bd334c7088482ef36bd113502021-11-03T21:33:34ZExpanding Phenotype of - Related Disorders: A Case Series2329-048X10.1177/2329048X211048068https://doaj.org/article/d07d7dc9bd334c7088482ef36bd113502021-11-01T00:00:00Zhttps://doi.org/10.1177/2329048X211048068https://doaj.org/toc/2329-048XNeurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p.[R756C]), recently described in literature as Relapsing Encephalopathy With Cerebellar Ataxia (RECA). In addition, a third patient showed an intermediate AHC-RDP phenotype and had a likely pathogenic novel de novo missense mutation (p.[L100 V]). These patients support the growing evidence that AHC, RDP and RECA are part of a continuous ATP1A3 mutation spectrum that is still expanding. Three common features were a sudden onset, asymmetrical neurological symptoms, as well as the presence of triggering factors. When present, the authors argue to perform exome sequencing in an early stage.Jelena De Vrieze MDIngrid M.B.H. van de Laar MD, PhDJohanneke F. de Rijk-van Andel MD, PhDErik-Jan Kamsteeg MD, PhDIrene A.W. Kotsopoulos MD, PhDStella A. de Man MD, PhDSAGE PublishingarticlePediatricsRJ1-570Neurology. Diseases of the nervous systemRC346-429ENChild Neurology Open, Vol 8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pediatrics RJ1-570 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Pediatrics RJ1-570 Neurology. Diseases of the nervous system RC346-429 Jelena De Vrieze MD Ingrid M.B.H. van de Laar MD, PhD Johanneke F. de Rijk-van Andel MD, PhD Erik-Jan Kamsteeg MD, PhD Irene A.W. Kotsopoulos MD, PhD Stella A. de Man MD, PhD Expanding Phenotype of - Related Disorders: A Case Series
description	Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p.[R756C]), recently described in literature as Relapsing Encephalopathy With Cerebellar Ataxia (RECA). In addition, a third patient showed an intermediate AHC-RDP phenotype and had a likely pathogenic novel de novo missense mutation (p.[L100 V]). These patients support the growing evidence that AHC, RDP and RECA are part of a continuous ATP1A3 mutation spectrum that is still expanding. Three common features were a sudden onset, asymmetrical neurological symptoms, as well as the presence of triggering factors. When present, the authors argue to perform exome sequencing in an early stage.
format	article
author	Jelena De Vrieze MD Ingrid M.B.H. van de Laar MD, PhD Johanneke F. de Rijk-van Andel MD, PhD Erik-Jan Kamsteeg MD, PhD Irene A.W. Kotsopoulos MD, PhD Stella A. de Man MD, PhD
author_facet	Jelena De Vrieze MD Ingrid M.B.H. van de Laar MD, PhD Johanneke F. de Rijk-van Andel MD, PhD Erik-Jan Kamsteeg MD, PhD Irene A.W. Kotsopoulos MD, PhD Stella A. de Man MD, PhD
author_sort	Jelena De Vrieze MD
title	Expanding Phenotype of - Related Disorders: A Case Series
title_short	Expanding Phenotype of - Related Disorders: A Case Series
title_full	Expanding Phenotype of - Related Disorders: A Case Series
title_fullStr	Expanding Phenotype of - Related Disorders: A Case Series
title_full_unstemmed	Expanding Phenotype of - Related Disorders: A Case Series
title_sort	expanding phenotype of - related disorders: a case series
publisher	SAGE Publishing
publishDate	2021
url	https://doaj.org/article/d07d7dc9bd334c7088482ef36bd11350
work_keys_str_mv	AT jelenadevriezemd expandingphenotypeofrelateddisordersacaseseries AT ingridmbhvandelaarmdphd expandingphenotypeofrelateddisordersacaseseries AT johannekefderijkvanandelmdphd expandingphenotypeofrelateddisordersacaseseries AT erikjankamsteegmdphd expandingphenotypeofrelateddisordersacaseseries AT ireneawkotsopoulosmdphd expandingphenotypeofrelateddisordersacaseseries AT stellaademanmdphd expandingphenotypeofrelateddisordersacaseseries
_version_	1718445424893755392

Expanding Phenotype of - Related Disorders: A Case Series

Ejemplares similares