Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report

Autores
Duggirala, Niharika; Ngo, Kathie J.; Pagnoni, Sabrina Marcela; Rosa, Alberto Luis; Fogel, Brent L.
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difculty in controlling balance and muscle coordination. Case presentation A family afected by spinocerebellar ataxia was identifed in Argentina and investigated using whole exome sequencing to determine the genetic etiology. The proband, a female white Hispanic aged 48, was noted to have slowly progressive gait ataxia, dysarthria, nystagmus, and moderate cerebellar atrophy. Whole exome sequencing was performed on three afected and two unafected family members and revealed a dominant pathogenic variant, p.Gln127Arg (19:54392986 A>G), in the protein kinase C gamma gene, and the family was diagnosed with spinocerebellar ataxia type 14. Conclusions To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families.
Fil: Duggirala, Niharika. University of California; Estados Unidos
Fil: Ngo, Kathie J.. University of California; Estados Unidos
Fil: Pagnoni, Sabrina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Farmacología Experimental de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Farmacología Experimental de Córdoba; Argentina. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; Argentina
Fil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Farmacología Experimental de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Farmacología Experimental de Córdoba; Argentina. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; Argentina
Fil: Fogel, Brent L.. University of California; Estados Unidos
Materia
PRKCG
SCA14
Spinocerebellar ataxia
Whole exome sequencing
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/251522
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/251522
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network_name_str CONICET Digital (CONICET)
spelling Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case reportDuggirala, NiharikaNgo, Kathie J.Pagnoni, Sabrina MarcelaRosa, Alberto LuisFogel, Brent L.PRKCGSCA14Spinocerebellar ataxiaWhole exome sequencinghttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difculty in controlling balance and muscle coordination. Case presentation A family afected by spinocerebellar ataxia was identifed in Argentina and investigated using whole exome sequencing to determine the genetic etiology. The proband, a female white Hispanic aged 48, was noted to have slowly progressive gait ataxia, dysarthria, nystagmus, and moderate cerebellar atrophy. Whole exome sequencing was performed on three afected and two unafected family members and revealed a dominant pathogenic variant, p.Gln127Arg (19:54392986 A>G), in the protein kinase C gamma gene, and the family was diagnosed with spinocerebellar ataxia type 14. Conclusions To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families.Fil: Duggirala, Niharika. University of California; Estados UnidosFil: Ngo, Kathie J.. University of California; Estados UnidosFil: Pagnoni, Sabrina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Farmacología Experimental de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Farmacología Experimental de Córdoba; Argentina. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; ArgentinaFil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Farmacología Experimental de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Farmacología Experimental de Córdoba; Argentina. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; ArgentinaFil: Fogel, Brent L.. University of California; Estados UnidosBioMed Central2023-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/251522Duggirala, Niharika; Ngo, Kathie J.; Pagnoni, Sabrina Marcela; Rosa, Alberto Luis; Fogel, Brent L.; Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report; BioMed Central; Journal of Medical Case Reports; 17; 168; 4-2023; 1-61752-1947CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-023-03897-yinfo:eu-repo/semantics/altIdentifier/doi/10.1186/s13256-023-03897-yinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:54:06Zoai:ri.conicet.gov.ar:11336/251522instacron: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 09:54:07.162CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
title Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
spellingShingle Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
Duggirala, Niharika
PRKCG
SCA14
Spinocerebellar ataxia
Whole exome sequencing
title_short Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
title_full Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
title_fullStr Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
title_full_unstemmed Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
title_sort Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report
dc.creator.none.fl_str_mv Duggirala, Niharika
Ngo, Kathie J.
Pagnoni, Sabrina Marcela
Rosa, Alberto Luis
Fogel, Brent L.
author Duggirala, Niharika
author_facet Duggirala, Niharika
Ngo, Kathie J.
Pagnoni, Sabrina Marcela
Rosa, Alberto Luis
Fogel, Brent L.
author_role author
author2 Ngo, Kathie J.
Pagnoni, Sabrina Marcela
Rosa, Alberto Luis
Fogel, Brent L.
author2_role author
author
author
author
dc.subject.none.fl_str_mv PRKCG
SCA14
Spinocerebellar ataxia
Whole exome sequencing
topic PRKCG
SCA14
Spinocerebellar ataxia
Whole exome sequencing
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 Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difculty in controlling balance and muscle coordination. Case presentation A family afected by spinocerebellar ataxia was identifed in Argentina and investigated using whole exome sequencing to determine the genetic etiology. The proband, a female white Hispanic aged 48, was noted to have slowly progressive gait ataxia, dysarthria, nystagmus, and moderate cerebellar atrophy. Whole exome sequencing was performed on three afected and two unafected family members and revealed a dominant pathogenic variant, p.Gln127Arg (19:54392986 A>G), in the protein kinase C gamma gene, and the family was diagnosed with spinocerebellar ataxia type 14. Conclusions To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families.
Fil: Duggirala, Niharika. University of California; Estados Unidos
Fil: Ngo, Kathie J.. University of California; Estados Unidos
Fil: Pagnoni, Sabrina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Farmacología Experimental de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Farmacología Experimental de Córdoba; Argentina. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; Argentina
Fil: Rosa, Alberto Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Farmacología Experimental de Córdoba. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Instituto de Farmacología Experimental de Córdoba; Argentina. Universidad Católica de Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Recursos Naturales y Sustentabilidad José Sanchez Labrador S. J.; Argentina
Fil: Fogel, Brent L.. University of California; Estados Unidos
description Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difculty in controlling balance and muscle coordination. Case presentation A family afected by spinocerebellar ataxia was identifed in Argentina and investigated using whole exome sequencing to determine the genetic etiology. The proband, a female white Hispanic aged 48, was noted to have slowly progressive gait ataxia, dysarthria, nystagmus, and moderate cerebellar atrophy. Whole exome sequencing was performed on three afected and two unafected family members and revealed a dominant pathogenic variant, p.Gln127Arg (19:54392986 A>G), in the protein kinase C gamma gene, and the family was diagnosed with spinocerebellar ataxia type 14. Conclusions To our knowledge, no previous cases of spinocerebellar ataxia type 14 have been reported in Argentina, expanding the global presence of this neurological disorder. This diagnosis supports whole exome sequencing as a high-yield method for identifying coding variants causing cerebellar ataxias and emphasizes the importance of broadening the clinical availability of whole exome sequencing for undiagnosed patients and families.
publishDate 2023
dc.date.none.fl_str_mv 2023-04
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/11336/251522
Duggirala, Niharika; Ngo, Kathie J.; Pagnoni, Sabrina Marcela; Rosa, Alberto Luis; Fogel, Brent L.; Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report; BioMed Central; Journal of Medical Case Reports; 17; 168; 4-2023; 1-6
1752-1947
CONICET Digital
CONICET
url http://hdl.handle.net/11336/251522
identifier_str_mv Duggirala, Niharika; Ngo, Kathie J.; Pagnoni, Sabrina Marcela; Rosa, Alberto Luis; Fogel, Brent L.; Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: A case report; BioMed Central; Journal of Medical Case Reports; 17; 168; 4-2023; 1-6
1752-1947
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
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info:eu-repo/semantics/altIdentifier/doi/10.1186/s13256-023-03897-y
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
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instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
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repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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