title: C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases.
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.
authors: Divisão de Doenças Neuromusculares, Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors: Paulo Victor Sgobbi de
authors: PV
authors: Souza
authors: Divisão de Doenças Neuromusculares, Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors: Wladimir Bocca Vieira de Rezende
authors: WB
authors: Pinto
authors: Divisão de Doenças Neuromusculares, Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors: Acary Souza Bulle
authors: AS
authors: Oliveira
mesh_terms: D017668:Age of Onset; D000073885:C9orf72 Protein; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008488:Medical Illustration; D016472:Motor Neuron Disease / Q000235:genetics; D009154:Mutation / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000503:physiopathology; D059906:Neuroimaging; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins