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

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

Author Souza, Paulo Victor Sgobbi de Autor UNIFESP Google Scholar
Pinto, Wladimir Bocca Vieira de Rezende Autor UNIFESP Google Scholar
Oliveira, Acary Souza Bulle Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords neurodegenerative diseases
motor neuron disease
frontotemporal dementia
parkinsonism
C9orf72
Language English
Date 2015-03-01
Published in Arquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.
ISSN 0004-282X (Sherpa/Romeo, impact factor)
Publisher Assoc Arquivos Neuro- Psiquiatria
Extent 246-256
Origin http://dx.doi.org/10.1590/0004-282X20140229
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000351751800013
SciELO ID S0004-282X2015000300246 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/38791

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