New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and under...

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Autores: Corral-Juan, Marc|||0000-0001-9407-7516, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steven|||0000-0003-3913-5829, Martínez-Piñeiro, Alicia|||0000-0003-1988-606X, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas Rolán, Dolores|||0000-0003-3084-053X, Tolosa, Eduardo, Volpini, Víctor, Álvarez, Ramiro|||0000-0002-8053-7232, Sanchez, Ivelisse|||0000-0002-7605-5337, Matilla-Dueñas, Antoni|||0000-0002-3514-4181
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:258911
Acceso en línea:https://ddd.uab.cat/record/258911
https://dx.doi.org/urn:doi:10.1093/braincomms/fcac030
Access Level:acceso abierto
Palabra clave:Spinocerebellar ataxia
SAMD9L
SCA49
Mitochondria
Zebrafish
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spelling New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)Corral-Juan, Marc|||0000-0001-9407-7516Casquero, PilarGiraldo-Restrepo, NataliaLaurie, Steven|||0000-0003-3913-5829Martínez-Piñeiro, Alicia|||0000-0003-1988-606XMateo-Montero, Raidili CristinaIspierto, LourdesVilas Rolán, Dolores|||0000-0003-3084-053XTolosa, EduardoVolpini, VíctorÁlvarez, Ramiro|||0000-0002-8053-7232Sanchez, Ivelisse|||0000-0002-7605-5337Matilla-Dueñas, Antoni|||0000-0002-3514-4181Spinocerebellar ataxiaSAMD9LSCA49MitochondriaZebrafishSpinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and underlying genetic defects identified. In this study, we describe a new spinocerebellar ataxia subtype in nine members of a Spanish five-generation family from Menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals presented with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs, and a variable age of onset ranging from 12 to 60 years. Neurophysiological studies showed moderate axonal sensory polyneuropathy with altered sympathetic skin response predominantly in the lower limbs. We identified the c.1877C.Universitat Autònoma de Barcelona 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/258911https://dx.doi.org/urn:doi:10.1093/braincomms/fcac030reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengMinisterio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI14/00136Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI14/01159Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI17/00534Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CP14/00029open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2589112026-06-06T12:50:31Z
dc.title.none.fl_str_mv New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
title New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
spellingShingle New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
Corral-Juan, Marc|||0000-0001-9407-7516
Spinocerebellar ataxia
SAMD9L
SCA49
Mitochondria
Zebrafish
title_short New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
title_full New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
title_fullStr New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
title_full_unstemmed New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
title_sort New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
dc.creator.none.fl_str_mv Corral-Juan, Marc|||0000-0001-9407-7516
Casquero, Pilar
Giraldo-Restrepo, Natalia
Laurie, Steven|||0000-0003-3913-5829
Martínez-Piñeiro, Alicia|||0000-0003-1988-606X
Mateo-Montero, Raidili Cristina
Ispierto, Lourdes
Vilas Rolán, Dolores|||0000-0003-3084-053X
Tolosa, Eduardo
Volpini, Víctor
Álvarez, Ramiro|||0000-0002-8053-7232
Sanchez, Ivelisse|||0000-0002-7605-5337
Matilla-Dueñas, Antoni|||0000-0002-3514-4181
author Corral-Juan, Marc|||0000-0001-9407-7516
author_facet Corral-Juan, Marc|||0000-0001-9407-7516
Casquero, Pilar
Giraldo-Restrepo, Natalia
Laurie, Steven|||0000-0003-3913-5829
Martínez-Piñeiro, Alicia|||0000-0003-1988-606X
Mateo-Montero, Raidili Cristina
Ispierto, Lourdes
Vilas Rolán, Dolores|||0000-0003-3084-053X
Tolosa, Eduardo
Volpini, Víctor
Álvarez, Ramiro|||0000-0002-8053-7232
Sanchez, Ivelisse|||0000-0002-7605-5337
Matilla-Dueñas, Antoni|||0000-0002-3514-4181
author_role author
author2 Casquero, Pilar
Giraldo-Restrepo, Natalia
Laurie, Steven|||0000-0003-3913-5829
Martínez-Piñeiro, Alicia|||0000-0003-1988-606X
Mateo-Montero, Raidili Cristina
Ispierto, Lourdes
Vilas Rolán, Dolores|||0000-0003-3084-053X
Tolosa, Eduardo
Volpini, Víctor
Álvarez, Ramiro|||0000-0002-8053-7232
Sanchez, Ivelisse|||0000-0002-7605-5337
Matilla-Dueñas, Antoni|||0000-0002-3514-4181
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv Spinocerebellar ataxia
SAMD9L
SCA49
Mitochondria
Zebrafish
topic Spinocerebellar ataxia
SAMD9L
SCA49
Mitochondria
Zebrafish
description Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and underlying genetic defects identified. In this study, we describe a new spinocerebellar ataxia subtype in nine members of a Spanish five-generation family from Menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals presented with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs, and a variable age of onset ranging from 12 to 60 years. Neurophysiological studies showed moderate axonal sensory polyneuropathy with altered sympathetic skin response predominantly in the lower limbs. We identified the c.1877C.
publishDate 2022
dc.date.none.fl_str_mv 2
2022-01-01
2022
2022-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/258911
https://dx.doi.org/urn:doi:10.1093/braincomms/fcac030
url https://ddd.uab.cat/record/258911
https://dx.doi.org/urn:doi:10.1093/braincomms/fcac030
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI14/00136
Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI14/01159
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI17/00534
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CP14/00029
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301603

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