A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas

Autores
Rodriguez Quiroga, Sergio; Zavala, Lucía; Perez Maturo, Josefina; González Morón, Dolores; Garretto, Nelida Susana; Kauffman, Marcelo Andres
Año de publicación
2020
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the widespread age of onset and clinical presentation. The adult NPC phenotype frequently includes ataxia, supranuclear gaze palsy, and cognitive and behavioral problems.1 Movement disorders are also often observed in these patients. Among them, chorea has been rarely described as a dominant sign.1, 2 On the other hand, a phenotype dominated by chorea and cognitive and behavioral manifestations is suggestive of Huntington's disease (HD).3, 4 The rare cases showing this phenotype proved to be negative for the CAG expansion in HTT and are categorized as Huntington-like disorders (HDL).5 Although the list of HDL genetic etiologies has grown considerably during the past few years, the diagnostic yield for these conditions is still limited.3, 5 Noteworthy, NPC is neither routinely considered in the differential diagnosis of chorea nor among the HDL disorders. We present 2 siblings presenting with a late onset and predominate choreic phenotype, where the final diagnosis was NPC.
Fil: Rodriguez Quiroga, Sergio. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Zavala, Lucía. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Perez Maturo, Josefina. 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. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: González Morón, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Garretto, Nelida Susana. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
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. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Materia
CHOREA
HUNTINGTON LIKE
NIEMANN PICK TYPE C
SUPRANUCLEAR GAZE PALSY
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:11336/185061
Acceder
id CONICETDig_2fbf39402d731c1dd5d1c16a3c5ee213
oai_identifier_str oai:ri.conicet.gov.ar:11336/185061
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of ChoreasRodriguez Quiroga, SergioZavala, LucíaPerez Maturo, JosefinaGonzález Morón, DoloresGarretto, Nelida SusanaKauffman, Marcelo AndresCHOREAHUNTINGTON LIKENIEMANN PICK TYPE CSUPRANUCLEAR GAZE PALSYhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the widespread age of onset and clinical presentation. The adult NPC phenotype frequently includes ataxia, supranuclear gaze palsy, and cognitive and behavioral problems.1 Movement disorders are also often observed in these patients. Among them, chorea has been rarely described as a dominant sign.1, 2 On the other hand, a phenotype dominated by chorea and cognitive and behavioral manifestations is suggestive of Huntington's disease (HD).3, 4 The rare cases showing this phenotype proved to be negative for the CAG expansion in HTT and are categorized as Huntington-like disorders (HDL).5 Although the list of HDL genetic etiologies has grown considerably during the past few years, the diagnostic yield for these conditions is still limited.3, 5 Noteworthy, NPC is neither routinely considered in the differential diagnosis of chorea nor among the HDL disorders. We present 2 siblings presenting with a late onset and predominate choreic phenotype, where the final diagnosis was NPC.Fil: Rodriguez Quiroga, Sergio. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Zavala, Lucía. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Perez Maturo, Josefina. 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. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: González Morón, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Garretto, Nelida Susana. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: 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. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaWiley-Blackwell2020-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/185061Rodriguez Quiroga, Sergio; Zavala, Lucía; Perez Maturo, Josefina; González Morón, Dolores; Garretto, Nelida Susana; et al.; A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas; Wiley-Blackwell; Movement Disorders Clinical Practice; 7; 3; 3-2020; 332-3342330-1619CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12920info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12920info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:59:41Zoai:ri.conicet.gov.ar:11336/185061instacron: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:34982025-09-29 09:59:41.646CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
title A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
spellingShingle A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
Rodriguez Quiroga, Sergio
CHOREA
HUNTINGTON LIKE
NIEMANN PICK TYPE C
SUPRANUCLEAR GAZE PALSY
title_short A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
title_full A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
title_fullStr A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
title_full_unstemmed A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
title_sort A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
dc.creator.none.fl_str_mv Rodriguez Quiroga, Sergio
Zavala, Lucía
Perez Maturo, Josefina
González Morón, Dolores
Garretto, Nelida Susana
Kauffman, Marcelo Andres
author Rodriguez Quiroga, Sergio
author_facet Rodriguez Quiroga, Sergio
Zavala, Lucía
Perez Maturo, Josefina
González Morón, Dolores
Garretto, Nelida Susana
Kauffman, Marcelo Andres
author_role author
author2 Zavala, Lucía
Perez Maturo, Josefina
González Morón, Dolores
Garretto, Nelida Susana
Kauffman, Marcelo Andres
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv CHOREA
HUNTINGTON LIKE
NIEMANN PICK TYPE C
SUPRANUCLEAR GAZE PALSY
topic CHOREA
HUNTINGTON LIKE
NIEMANN PICK TYPE C
SUPRANUCLEAR GAZE PALSY
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the widespread age of onset and clinical presentation. The adult NPC phenotype frequently includes ataxia, supranuclear gaze palsy, and cognitive and behavioral problems.1 Movement disorders are also often observed in these patients. Among them, chorea has been rarely described as a dominant sign.1, 2 On the other hand, a phenotype dominated by chorea and cognitive and behavioral manifestations is suggestive of Huntington's disease (HD).3, 4 The rare cases showing this phenotype proved to be negative for the CAG expansion in HTT and are categorized as Huntington-like disorders (HDL).5 Although the list of HDL genetic etiologies has grown considerably during the past few years, the diagnostic yield for these conditions is still limited.3, 5 Noteworthy, NPC is neither routinely considered in the differential diagnosis of chorea nor among the HDL disorders. We present 2 siblings presenting with a late onset and predominate choreic phenotype, where the final diagnosis was NPC.
Fil: Rodriguez Quiroga, Sergio. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Zavala, Lucía. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Perez Maturo, Josefina. 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. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: González Morón, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
Fil: Garretto, Nelida Susana. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
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. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentina
description Niemman Pick type C (NPC) is a treatable neurodegenerative lysosomal disorder characterized by the widespread age of onset and clinical presentation. The adult NPC phenotype frequently includes ataxia, supranuclear gaze palsy, and cognitive and behavioral problems.1 Movement disorders are also often observed in these patients. Among them, chorea has been rarely described as a dominant sign.1, 2 On the other hand, a phenotype dominated by chorea and cognitive and behavioral manifestations is suggestive of Huntington's disease (HD).3, 4 The rare cases showing this phenotype proved to be negative for the CAG expansion in HTT and are categorized as Huntington-like disorders (HDL).5 Although the list of HDL genetic etiologies has grown considerably during the past few years, the diagnostic yield for these conditions is still limited.3, 5 Noteworthy, NPC is neither routinely considered in the differential diagnosis of chorea nor among the HDL disorders. We present 2 siblings presenting with a late onset and predominate choreic phenotype, where the final diagnosis was NPC.
publishDate 2020
dc.date.none.fl_str_mv 2020-03
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/11336/185061
Rodriguez Quiroga, Sergio; Zavala, Lucía; Perez Maturo, Josefina; González Morón, Dolores; Garretto, Nelida Susana; et al.; A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas; Wiley-Blackwell; Movement Disorders Clinical Practice; 7; 3; 3-2020; 332-334
2330-1619
CONICET Digital
CONICET
url http://hdl.handle.net/11336/185061
identifier_str_mv Rodriguez Quiroga, Sergio; Zavala, Lucía; Perez Maturo, Josefina; González Morón, Dolores; Garretto, Nelida Susana; et al.; A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas; Wiley-Blackwell; Movement Disorders Clinical Practice; 7; 3; 3-2020; 332-334
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/https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12920
info:eu-repo/semantics/altIdentifier/doi/10.1002/mdc3.12920
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
publisher.none.fl_str_mv Wiley-Blackwell
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_ 1844613769151381504
score 13.070432

Publicaciones similares