Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options

Autores
Rossi, Malco; Balint, Bettina; Millar Vernetti, Patricio; Bhatia, Kailash P.; Merello, Marcelo Jorge
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever-expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia-ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods: For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results: There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico-radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia-ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions: The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia-ataxia syndromes.
Fil: Rossi, Malco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Balint, Bettina. Institute of Neurology; Reino Unido. John Radcliffe Hospital; Reino Unido. University Hospital; Alemania
Fil: Millar Vernetti, Patricio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Bhatia, Kailash P.. Institute of Neurology; Reino Unido
Fil: Merello, Marcelo Jorge. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Materia
ATAXIA
DIAGNOSIS
DYSTONIA
GENETICS
MOVEMENT DISORDERS
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/93628
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment optionsRossi, MalcoBalint, BettinaMillar Vernetti, PatricioBhatia, Kailash P.Merello, Marcelo JorgeATAXIADIAGNOSISDYSTONIAGENETICSMOVEMENT DISORDERShttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background: Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever-expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia-ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods: For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results: There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico-radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia-ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions: The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia-ataxia syndromes.Fil: Rossi, Malco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Balint, Bettina. Institute of Neurology; Reino Unido. John Radcliffe Hospital; Reino Unido. University Hospital; AlemaniaFil: Millar Vernetti, Patricio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bhatia, Kailash P.. Institute of Neurology; Reino UnidoFil: Merello, Marcelo Jorge. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaWiley Blackwell Publishing, Inc2018-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/93628Rossi, Malco; Balint, Bettina; Millar Vernetti, Patricio; Bhatia, Kailash P.; Merello, Marcelo Jorge; Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options; Wiley Blackwell Publishing, Inc; Movement Disorders Clinical Practice; 5; 4; 5-2018; 373-3822330-1619CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://doi.wiley.com/10.1002/mdc3.12635info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12635info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:07:40Zoai:ri.conicet.gov.ar:11336/93628instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:07:41.245CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
title Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
spellingShingle Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
Rossi, Malco
ATAXIA
DIAGNOSIS
DYSTONIA
GENETICS
MOVEMENT DISORDERS
title_short Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
title_full Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
title_fullStr Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
title_full_unstemmed Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
title_sort Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options
dc.creator.none.fl_str_mv Rossi, Malco
Balint, Bettina
Millar Vernetti, Patricio
Bhatia, Kailash P.
Merello, Marcelo Jorge
author Rossi, Malco
author_facet Rossi, Malco
Balint, Bettina
Millar Vernetti, Patricio
Bhatia, Kailash P.
Merello, Marcelo Jorge
author_role author
author2 Balint, Bettina
Millar Vernetti, Patricio
Bhatia, Kailash P.
Merello, Marcelo Jorge
author2_role author
author
author
author
dc.subject.none.fl_str_mv ATAXIA
DIAGNOSIS
DYSTONIA
GENETICS
MOVEMENT DISORDERS
topic ATAXIA
DIAGNOSIS
DYSTONIA
GENETICS
MOVEMENT DISORDERS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever-expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia-ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods: For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results: There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico-radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia-ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions: The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia-ataxia syndromes.
Fil: Rossi, Malco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Balint, Bettina. Institute of Neurology; Reino Unido. John Radcliffe Hospital; Reino Unido. University Hospital; Alemania
Fil: Millar Vernetti, Patricio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Bhatia, Kailash P.. Institute of Neurology; Reino Unido
Fil: Merello, Marcelo Jorge. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
description Background: Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever-expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia-ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods: For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results: There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico-radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia-ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions: The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia-ataxia syndromes.
publishDate 2018
dc.date.none.fl_str_mv 2018-05
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/93628
Rossi, Malco; Balint, Bettina; Millar Vernetti, Patricio; Bhatia, Kailash P.; Merello, Marcelo Jorge; Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options; Wiley Blackwell Publishing, Inc; Movement Disorders Clinical Practice; 5; 4; 5-2018; 373-382
2330-1619
CONICET Digital
CONICET
url http://hdl.handle.net/11336/93628
identifier_str_mv Rossi, Malco; Balint, Bettina; Millar Vernetti, Patricio; Bhatia, Kailash P.; Merello, Marcelo Jorge; Genetic dystonia-ataxia syndromes: clinical spectrum, diagnostic approach and treatment options; Wiley Blackwell Publishing, Inc; Movement Disorders Clinical Practice; 5; 4; 5-2018; 373-382
2330-1619
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://doi.wiley.com/10.1002/mdc3.12635
info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12635
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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