Autosomal dominant cerebellar ataxias: a systematic review of clinical features

Autores
Rossi, M.; Pérez Lloret, Santiago; Doldan, L.; Cerquetti, Daniel; Balej, J.; Millar Vernetti, P.; Hawkes, M.; Cammarota, Adrian Aldo; Merello, Marcelo Jorge
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
BACKGROUND AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. METHODS: This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure. RESULTS: In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features. CONCLUSIONS: Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
Fil: Rossi, M.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Pérez Lloret, Santiago. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Doldan, L.. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina
Fil: Cerquetti, Daniel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Balej, J.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Millar Vernetti, P.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Hawkes, M.. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina
Fil: Cammarota, Adrian Aldo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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 And Gait Disorders
Autosomal Dominant
Cerebellar
Movement Disorders
Spinocerebellar Ataxia
Systematic Review
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/30194
Acceder
id CONICETDig_54aa8ee1fe725efd624f28b45a2a8247
oai_identifier_str oai:ri.conicet.gov.ar:11336/30194
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Autosomal dominant cerebellar ataxias: a systematic review of clinical featuresRossi, M.Pérez Lloret, SantiagoDoldan, L.Cerquetti, DanielBalej, J.Millar Vernetti, P.Hawkes, M.Cammarota, Adrian AldoMerello, Marcelo JorgeAtaxia And Gait DisordersAutosomal DominantCerebellarMovement DisordersSpinocerebellar AtaxiaSystematic Reviewhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3BACKGROUND AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. METHODS: This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure. RESULTS: In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features. CONCLUSIONS: Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.Fil: Rossi, M.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Pérez Lloret, Santiago. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Doldan, L.. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; ArgentinaFil: Cerquetti, Daniel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Balej, J.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Millar Vernetti, P.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Hawkes, M.. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; ArgentinaFil: Cammarota, Adrian Aldo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Merello, Marcelo Jorge. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaWiley2014-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/30194Rossi, M.; Pérez Lloret, Santiago; Doldan, L.; Cerquetti, Daniel; Balej, J.; et al.; Autosomal dominant cerebellar ataxias: a systematic review of clinical features; Wiley; European Journal of Neurology; 21; 4; 2-2014; 607-6151351-51011468-1331CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/ene.12350/abstractinfo:eu-repo/semantics/altIdentifier/doi/10.1111/ene.12350info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:45:59Zoai:ri.conicet.gov.ar:11336/30194instacron: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 09:45:59.329CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Autosomal dominant cerebellar ataxias: a systematic review of clinical features
title Autosomal dominant cerebellar ataxias: a systematic review of clinical features
spellingShingle Autosomal dominant cerebellar ataxias: a systematic review of clinical features
Rossi, M.
Ataxia And Gait Disorders
Autosomal Dominant
Cerebellar
Movement Disorders
Spinocerebellar Ataxia
Systematic Review
title_short Autosomal dominant cerebellar ataxias: a systematic review of clinical features
title_full Autosomal dominant cerebellar ataxias: a systematic review of clinical features
title_fullStr Autosomal dominant cerebellar ataxias: a systematic review of clinical features
title_full_unstemmed Autosomal dominant cerebellar ataxias: a systematic review of clinical features
title_sort Autosomal dominant cerebellar ataxias: a systematic review of clinical features
dc.creator.none.fl_str_mv Rossi, M.
Pérez Lloret, Santiago
Doldan, L.
Cerquetti, Daniel
Balej, J.
Millar Vernetti, P.
Hawkes, M.
Cammarota, Adrian Aldo
Merello, Marcelo Jorge
author Rossi, M.
author_facet Rossi, M.
Pérez Lloret, Santiago
Doldan, L.
Cerquetti, Daniel
Balej, J.
Millar Vernetti, P.
Hawkes, M.
Cammarota, Adrian Aldo
Merello, Marcelo Jorge
author_role author
author2 Pérez Lloret, Santiago
Doldan, L.
Cerquetti, Daniel
Balej, J.
Millar Vernetti, P.
Hawkes, M.
Cammarota, Adrian Aldo
Merello, Marcelo Jorge
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Ataxia And Gait Disorders
Autosomal Dominant
Cerebellar
Movement Disorders
Spinocerebellar Ataxia
Systematic Review
topic Ataxia And Gait Disorders
Autosomal Dominant
Cerebellar
Movement Disorders
Spinocerebellar Ataxia
Systematic Review
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv BACKGROUND AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. METHODS: This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure. RESULTS: In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features. CONCLUSIONS: Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
Fil: Rossi, M.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Pérez Lloret, Santiago. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Doldan, L.. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina
Fil: Cerquetti, Daniel. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Balej, J.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Millar Vernetti, P.. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Hawkes, M.. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina
Fil: Cammarota, Adrian Aldo. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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 AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. METHODS: This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure. RESULTS: In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features. CONCLUSIONS: Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
publishDate 2014
dc.date.none.fl_str_mv 2014-02
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/11336/30194
Rossi, M.; Pérez Lloret, Santiago; Doldan, L.; Cerquetti, Daniel; Balej, J.; et al.; Autosomal dominant cerebellar ataxias: a systematic review of clinical features; Wiley; European Journal of Neurology; 21; 4; 2-2014; 607-615
1351-5101
1468-1331
CONICET Digital
CONICET
url http://hdl.handle.net/11336/30194
identifier_str_mv Rossi, M.; Pérez Lloret, Santiago; Doldan, L.; Cerquetti, Daniel; Balej, J.; et al.; Autosomal dominant cerebellar ataxias: a systematic review of clinical features; Wiley; European Journal of Neurology; 21; 4; 2-2014; 607-615
1351-5101
1468-1331
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://onlinelibrary.wiley.com/doi/10.1111/ene.12350/abstract
info:eu-repo/semantics/altIdentifier/doi/10.1111/ene.12350
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
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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