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

Arquivos de Neuro-Psiquiatria

Paulo Victor Sgobbi De Souza¹  Wladimir Bocca Vieira De Rezende Pinto¹  Acary Souza Bulle Oliveira¹ 

关键词: neurodegenerative diseases;    motor neuron disease;    frontotemporal dementia;    parkinsonism;    C9orf72;    doenças neurodegenerativas;    doença do neurônio motor;    demência frontotemporal;    parkinsonismo;    C9orf72;   

DOI  :  10.1590/0004-282X20140229

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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