Neuro-Ophthalmological Findings in Friedreich’s Ataxia

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death be...

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Autores: Rojas Lozano, María Del Pilar, Hoz Montañana, María Rosa De, Cadena Santoyo, Manuel, García Martín, Elena Salobrar, Fernández Albarral, José, López Cuenca, Inés, Elvira Hurtado, Lorena, Urcelay Segura, José Luis, Salazar Corral, Juan José, Ramírez Sebastián, José Manuel, Ramírez Sebastián, Ana Isabel
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universidad Complutense de Madrid (UCM)
Repositorio:Docta Complutense
Idioma:inglés
OAI Identifier:oai:docta.ucm.es:20.500.14352/4438
Acceso en línea:https://hdl.handle.net/20.500.14352/4438
Access Level:acceso abierto
Palabra clave:617.731-003.8
616.8‑009.26
616.832.61
Friedreich ataxia
FRDA
Neurodegeneration
Neurological disability
Eye
Retina
Neurociencias (Medicina)
Oftalmología
2490 Neurociencias
3201.09 Oftalmología
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oai_identifier_str oai:docta.ucm.es:20.500.14352/4438
network_acronym_str ES
network_name_str España
repository_id_str
spelling Neuro-Ophthalmological Findings in Friedreich’s AtaxiaRojas Lozano, María Del PilarHoz Montañana, María Rosa DeCadena Santoyo, ManuelGarcía Martín, Elena SalobrarFernández Albarral, JoséLópez Cuenca, InésElvira Hurtado, LorenaUrcelay Segura, José LuisSalazar Corral, Juan JoséRamírez Sebastián, José ManuelRamírez Sebastián, Ana Isabel617.731-003.8616.8‑009.26616.832.61Friedreich ataxiaFRDANeurodegenerationNeurological disabilityEyeRetinaNeurociencias (Medicina)Oftalmología2490 Neurociencias3201.09 OftalmologíaFriedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system’s vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers.MDPIUniversidad Complutense de Madrid20212021-07-2320212021-07-23journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.14352/4438reponame:Docta Complutenseinstname:Universidad Complutense de Madrid (UCM)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 3.0 Españahttps://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:docta.ucm.es:20.500.14352/44382026-06-02T12:44:21Z
dc.title.none.fl_str_mv Neuro-Ophthalmological Findings in Friedreich’s Ataxia
title Neuro-Ophthalmological Findings in Friedreich’s Ataxia
spellingShingle Neuro-Ophthalmological Findings in Friedreich’s Ataxia
Rojas Lozano, María Del Pilar
617.731-003.8
616.8‑009.26
616.832.61
Friedreich ataxia
FRDA
Neurodegeneration
Neurological disability
Eye
Retina
Neurociencias (Medicina)
Oftalmología
2490 Neurociencias
3201.09 Oftalmología
title_short Neuro-Ophthalmological Findings in Friedreich’s Ataxia
title_full Neuro-Ophthalmological Findings in Friedreich’s Ataxia
title_fullStr Neuro-Ophthalmological Findings in Friedreich’s Ataxia
title_full_unstemmed Neuro-Ophthalmological Findings in Friedreich’s Ataxia
title_sort Neuro-Ophthalmological Findings in Friedreich’s Ataxia
dc.creator.none.fl_str_mv Rojas Lozano, María Del Pilar
Hoz Montañana, María Rosa De
Cadena Santoyo, Manuel
García Martín, Elena Salobrar
Fernández Albarral, José
López Cuenca, Inés
Elvira Hurtado, Lorena
Urcelay Segura, José Luis
Salazar Corral, Juan José
Ramírez Sebastián, José Manuel
Ramírez Sebastián, Ana Isabel
author Rojas Lozano, María Del Pilar
author_facet Rojas Lozano, María Del Pilar
Hoz Montañana, María Rosa De
Cadena Santoyo, Manuel
García Martín, Elena Salobrar
Fernández Albarral, José
López Cuenca, Inés
Elvira Hurtado, Lorena
Urcelay Segura, José Luis
Salazar Corral, Juan José
Ramírez Sebastián, José Manuel
Ramírez Sebastián, Ana Isabel
author_role author
author2 Hoz Montañana, María Rosa De
Cadena Santoyo, Manuel
García Martín, Elena Salobrar
Fernández Albarral, José
López Cuenca, Inés
Elvira Hurtado, Lorena
Urcelay Segura, José Luis
Salazar Corral, Juan José
Ramírez Sebastián, José Manuel
Ramírez Sebastián, Ana Isabel
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidad Complutense de Madrid
dc.subject.none.fl_str_mv 617.731-003.8
616.8‑009.26
616.832.61
Friedreich ataxia
FRDA
Neurodegeneration
Neurological disability
Eye
Retina
Neurociencias (Medicina)
Oftalmología
2490 Neurociencias
3201.09 Oftalmología
topic 617.731-003.8
616.8‑009.26
616.832.61
Friedreich ataxia
FRDA
Neurodegeneration
Neurological disability
Eye
Retina
Neurociencias (Medicina)
Oftalmología
2490 Neurociencias
3201.09 Oftalmología
description Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system’s vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021-07-23
2021
2021-07-23
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.14352/4438
url https://hdl.handle.net/20.500.14352/4438
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 3.0 España
https://creativecommons.org/licenses/by/3.0/es/
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
Atribución 3.0 España
https://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Docta Complutense
instname:Universidad Complutense de Madrid (UCM)
instname_str Universidad Complutense de Madrid (UCM)
reponame_str Docta Complutense
collection Docta Complutense
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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