Please use this identifier to cite or link to this item: http://repositorio.unifesp.br/handle/11600/38791
Title: C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
Authors: Souza, Paulo Victor Sgobbi de [UNIFESP]
Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]
Oliveira, Acary Souza Bulle [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Keywords: neurodegenerative diseases
motor neuron disease
frontotemporal dementia
parkinsonism
C9orf72
Issue Date: 1-Mar-2015
Publisher: Assoc Arquivos Neuro- Psiquiatria
Citation: Arquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.
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.
URI: http://repositorio.unifesp.br/handle/11600/38791
ISSN: 0004-282X
Other Identifiers: http://dx.doi.org/10.1590/0004-282X20140229
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