C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
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...
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Academia Brasileira de Neurologia (ABNEURO)
2015-03-01
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Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000300246&lng=en&tlng=en |
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doaj-0fc35061c5664d278642deefe24532862020-11-25T02:25:19ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272015-03-0173324625610.1590/0004-282X20140229S0004-282X2015000300246C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesPaulo Victor Sgobbi de SouzaWladimir Bocca Vieira de Rezende PintoAcary Souza Bulle OliveiraNeurodegenerative 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000300246&lng=en&tlng=endoenças neurodegenerativasdoença do neurônio motordemência frontotemporalparkinsonismoC9orf72 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Acary Souza Bulle Oliveira |
spellingShingle |
Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Acary Souza Bulle Oliveira C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases Arquivos de Neuro-Psiquiatria doenças neurodegenerativas doença do neurônio motor demência frontotemporal parkinsonismo C9orf72 |
author_facet |
Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Acary Souza Bulle Oliveira |
author_sort |
Paulo Victor Sgobbi de Souza |
title |
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
title_short |
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
title_full |
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
title_fullStr |
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
title_full_unstemmed |
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
title_sort |
c9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases |
publisher |
Academia Brasileira de Neurologia (ABNEURO) |
series |
Arquivos de Neuro-Psiquiatria |
issn |
1678-4227 |
publishDate |
2015-03-01 |
description |
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. |
topic |
doenças neurodegenerativas doença do neurônio motor demência frontotemporal parkinsonismo C9orf72 |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000300246&lng=en&tlng=en |
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