C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
Data
2015-03-01
Autores
Souza, Paulo Victor Sgobbi de 
Pinto, Wladimir Bocca Vieira de Rezende
Oliveira, Acary Souza Bulle
Tipo
Artigo
Título da Revista
ISSN da Revista
Título de Volume
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.
Descrição
Citação
Arquivos de Neuro-psiquiatria. São Paulo, SP: Assoc Arquivos Neuro- Psiquiatria, v. 73, n. 3, p. 246-256, 2015.