Holmes Tremor‐Like Phenotype in DYT1 Dystonia

Autores
Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores; Espay, Alberto J; Kauffman, Marcelo Andres
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the other hand, dystonic tremor represents a jerky postural and action tremor, which if severe enough may include a resting component and may arise from cerebellar and nigrostriatal dysfunction. Here, we present a patient with a four‐decade history of progressive tremor, initially interpreted as Holmes tremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES) demonstrated a pathogenic TOR1A deletion. This case highlights two important clinical points, (1) the need for proper semiologic interpretation: direct DYT1 testing could have been entertained if tremor was properly categorized as dystonic rather than cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, with tremor as a presenting and disabling feature separate from the body part affected by dystonia (“tremor associated with dystonia”).
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: González Morón, Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Espay, Alberto J. University of Cincinnati; Estados Unidos
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
Materia
DYSTONIA
GENOMICS
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:11336/88558
Acceder
id CONICETDig_650a25b20ee99bcf1dcb5cebdedcdad2
oai_identifier_str oai:ri.conicet.gov.ar:11336/88558
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Holmes Tremor‐Like Phenotype in DYT1 DystoniaRodríguez Quiroga, Sergio AlejandroGonzález Morón, DoloresEspay, Alberto JKauffman, Marcelo AndresDYSTONIAGENOMICShttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the other hand, dystonic tremor represents a jerky postural and action tremor, which if severe enough may include a resting component and may arise from cerebellar and nigrostriatal dysfunction. Here, we present a patient with a four‐decade history of progressive tremor, initially interpreted as Holmes tremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES) demonstrated a pathogenic TOR1A deletion. This case highlights two important clinical points, (1) the need for proper semiologic interpretation: direct DYT1 testing could have been entertained if tremor was properly categorized as dystonic rather than cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, with tremor as a presenting and disabling feature separate from the body part affected by dystonia (“tremor associated with dystonia”).Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: González Morón, Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Espay, Alberto J. University of Cincinnati; Estados UnidosFil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; ArgentinaWiley2018-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/88558Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores; Espay, Alberto J; Kauffman, Marcelo Andres; Holmes Tremor‐Like Phenotype in DYT1 Dystonia; Wiley; Movement Disorders Clinical Practice; 5; 2; 2-2018; 206-2082330-1619CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12585info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12585info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:07:20Zoai:ri.conicet.gov.ar:11336/88558instacron: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 10:07:20.952CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Holmes Tremor‐Like Phenotype in DYT1 Dystonia
title Holmes Tremor‐Like Phenotype in DYT1 Dystonia
spellingShingle Holmes Tremor‐Like Phenotype in DYT1 Dystonia
Rodríguez Quiroga, Sergio Alejandro
DYSTONIA
GENOMICS
title_short Holmes Tremor‐Like Phenotype in DYT1 Dystonia
title_full Holmes Tremor‐Like Phenotype in DYT1 Dystonia
title_fullStr Holmes Tremor‐Like Phenotype in DYT1 Dystonia
title_full_unstemmed Holmes Tremor‐Like Phenotype in DYT1 Dystonia
title_sort Holmes Tremor‐Like Phenotype in DYT1 Dystonia
dc.creator.none.fl_str_mv Rodríguez Quiroga, Sergio Alejandro
González Morón, Dolores
Espay, Alberto J
Kauffman, Marcelo Andres
author Rodríguez Quiroga, Sergio Alejandro
author_facet Rodríguez Quiroga, Sergio Alejandro
González Morón, Dolores
Espay, Alberto J
Kauffman, Marcelo Andres
author_role author
author2 González Morón, Dolores
Espay, Alberto J
Kauffman, Marcelo Andres
author2_role author
author
author
dc.subject.none.fl_str_mv DYSTONIA
GENOMICS
topic DYSTONIA
GENOMICS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the other hand, dystonic tremor represents a jerky postural and action tremor, which if severe enough may include a resting component and may arise from cerebellar and nigrostriatal dysfunction. Here, we present a patient with a four‐decade history of progressive tremor, initially interpreted as Holmes tremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES) demonstrated a pathogenic TOR1A deletion. This case highlights two important clinical points, (1) the need for proper semiologic interpretation: direct DYT1 testing could have been entertained if tremor was properly categorized as dystonic rather than cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, with tremor as a presenting and disabling feature separate from the body part affected by dystonia (“tremor associated with dystonia”).
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: González Morón, Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Espay, Alberto J. University of Cincinnati; Estados Unidos
Fil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina
description Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the other hand, dystonic tremor represents a jerky postural and action tremor, which if severe enough may include a resting component and may arise from cerebellar and nigrostriatal dysfunction. Here, we present a patient with a four‐decade history of progressive tremor, initially interpreted as Holmes tremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES) demonstrated a pathogenic TOR1A deletion. This case highlights two important clinical points, (1) the need for proper semiologic interpretation: direct DYT1 testing could have been entertained if tremor was properly categorized as dystonic rather than cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, with tremor as a presenting and disabling feature separate from the body part affected by dystonia (“tremor associated with dystonia”).
publishDate 2018
dc.date.none.fl_str_mv 2018-02
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/11336/88558
Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores; Espay, Alberto J; Kauffman, Marcelo Andres; Holmes Tremor‐Like Phenotype in DYT1 Dystonia; Wiley; Movement Disorders Clinical Practice; 5; 2; 2-2018; 206-208
2330-1619
CONICET Digital
CONICET
url http://hdl.handle.net/11336/88558
identifier_str_mv Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores; Espay, Alberto J; Kauffman, Marcelo Andres; Holmes Tremor‐Like Phenotype in DYT1 Dystonia; Wiley; Movement Disorders Clinical Practice; 5; 2; 2-2018; 206-208
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/doi/10.1002/mdc3.12585
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12585
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
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
_version_ 1842269999815720960
score 13.13397

Publicaciones similares