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

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dc.contributor.authorSouza, Paulo Victor Sgobbi de [UNIFESP]
dc.contributor.authorPinto, Wladimir Bocca Vieira de Rezende [UNIFESP]
dc.contributor.authorOliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T14:40:06Z
dc.date.available2016-01-24T14:40:06Z
dc.date.issued2015-03-01
dc.description.abstractNeurodegenerative 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.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol & Neurocirurgia, Div Doencas Neuromusculares, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol & Neurocirurgia, Div Doencas Neuromusculares, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent246-256
dc.identifierhttp://dx.doi.org/10.1590/0004-282X20140229
dc.identifier.citationArquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.
dc.identifier.doi10.1590/0004-282X20140229
dc.identifier.fileS0004-282X2015000300246.pdf
dc.identifier.issn0004-282X
dc.identifier.scieloS0004-282X2015000300246
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38791
dc.identifier.wosWOS:000351751800013
dc.language.isoeng
dc.publisherAssoc Arquivos Neuro- Psiquiatria
dc.relation.ispartofArquivos de Neuro-psiquiatria
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectneurodegenerative diseasesen
dc.subjectmotor neuron diseaseen
dc.subjectfrontotemporal dementiaen
dc.subjectparkinsonismen
dc.subjectC9orf72en
dc.titleC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesen
dc.typeinfo:eu-repo/semantics/article
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