C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

Detalhes bibliográficos
Autor(a) principal: Souza, Paulo Victor Sgobbi de [UNIFESP]
Data de Publicação: 2015
Outros Autores: Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP], Oliveira, Acary Souza Bulle [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1590/0004-282X20140229
http://repositorio.unifesp.br/handle/11600/38791
Resumo: Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. in the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.
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spelling C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesneurodegenerative diseasesmotor neuron diseasefrontotemporal dementiaparkinsonismC9orf72Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. in the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.Universidade Federal de São Paulo, Dept Neurol & Neurocirurgia, Div Doencas Neuromusculares, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Neurol & Neurocirurgia, Div Doencas Neuromusculares, São Paulo, BrazilWeb of ScienceAssoc Arquivos Neuro- PsiquiatriaUniversidade Federal de São Paulo (UNIFESP)Souza, Paulo Victor Sgobbi de [UNIFESP]Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]Oliveira, Acary Souza Bulle [UNIFESP]2016-01-24T14:40:06Z2016-01-24T14:40:06Z2015-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion246-256application/pdfhttp://dx.doi.org/10.1590/0004-282X20140229Arquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.10.1590/0004-282X20140229S0004-282X2015000300246.pdf0004-282XS0004-282X2015000300246http://repositorio.unifesp.br/handle/11600/38791WOS:000351751800013engArquivos de Neuro-psiquiatriainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-01T06:32:31Zoai:repositorio.unifesp.br/:11600/38791Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-01T06:32:31Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
title C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
spellingShingle C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
Souza, Paulo Victor Sgobbi de [UNIFESP]
neurodegenerative diseases
motor neuron disease
frontotemporal dementia
parkinsonism
C9orf72
title_short C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
title_full C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
title_fullStr C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
title_full_unstemmed C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
title_sort C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
author Souza, Paulo Victor Sgobbi de [UNIFESP]
author_facet Souza, Paulo Victor Sgobbi de [UNIFESP]
Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]
Oliveira, Acary Souza Bulle [UNIFESP]
author_role author
author2 Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]
Oliveira, Acary Souza Bulle [UNIFESP]
author2_role author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Souza, Paulo Victor Sgobbi de [UNIFESP]
Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]
Oliveira, Acary Souza Bulle [UNIFESP]
dc.subject.por.fl_str_mv neurodegenerative diseases
motor neuron disease
frontotemporal dementia
parkinsonism
C9orf72
topic neurodegenerative diseases
motor neuron disease
frontotemporal dementia
parkinsonism
C9orf72
description Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. in the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.
publishDate 2015
dc.date.none.fl_str_mv 2015-03-01
2016-01-24T14:40:06Z
2016-01-24T14:40:06Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/0004-282X20140229
Arquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.
10.1590/0004-282X20140229
S0004-282X2015000300246.pdf
0004-282X
S0004-282X2015000300246
http://repositorio.unifesp.br/handle/11600/38791
WOS:000351751800013
url http://dx.doi.org/10.1590/0004-282X20140229
http://repositorio.unifesp.br/handle/11600/38791
identifier_str_mv Arquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.
10.1590/0004-282X20140229
S0004-282X2015000300246.pdf
0004-282X
S0004-282X2015000300246
WOS:000351751800013
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Arquivos de Neuro-psiquiatria
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 246-256
application/pdf
dc.publisher.none.fl_str_mv Assoc Arquivos Neuro- Psiquiatria
publisher.none.fl_str_mv Assoc Arquivos Neuro- Psiquiatria
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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