TY - JOUR
T1 - C9orf72 and the ftd-als spectrum
T2 - A systematic review of neuroimaging studies
AU - Prado, Laura de Godoy Rousseff
AU - Bicalho, Isabella Carolina Santos
AU - Magalhães, Daiane
AU - Caramelli, Paulo
AU - Teixeira, Antônio Lúcio
AU - de Souza, Leonardo Cruz
N1 - Publisher Copyright:
© 2015, Academia Brasileira de Neurologia. All rights reserved.
PY - 2015/12
Y1 - 2015/12
N2 - Objective: To perform a systematic review of the literature on the neuroimaging investigation of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) associated with C9ORF72 mutation. Methods: The search was performed on PubMed and LILACS with the following terms: C9ORF72, MRI, SPECT, PET, ALS, FTD. No filters were added. Results: Twenty articles were selected. Most studies found consistent involvement of frontotemporal regions in C9ORF72 carriers, including prefrontal cortex, and also cingulate, subcortical regions, especially the thalami, and posterior regions such as the parietal and occipital lobes. Functional connectivity was also explored and impaired sensorimotor connectivity in striatum and thalami was found in behavioral variant FTD C9ORF72 carriers. Some papers have reported an absence of significant abnormalities on brain imaging. Conclusion: The inclusion of patients at different stages of the disease, differences in neuroimaging methods across studies, and distinct clinical phenotypes associated with C9ORF72 may account for the heterogeneity of results.
AB - Objective: To perform a systematic review of the literature on the neuroimaging investigation of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) associated with C9ORF72 mutation. Methods: The search was performed on PubMed and LILACS with the following terms: C9ORF72, MRI, SPECT, PET, ALS, FTD. No filters were added. Results: Twenty articles were selected. Most studies found consistent involvement of frontotemporal regions in C9ORF72 carriers, including prefrontal cortex, and also cingulate, subcortical regions, especially the thalami, and posterior regions such as the parietal and occipital lobes. Functional connectivity was also explored and impaired sensorimotor connectivity in striatum and thalami was found in behavioral variant FTD C9ORF72 carriers. Some papers have reported an absence of significant abnormalities on brain imaging. Conclusion: The inclusion of patients at different stages of the disease, differences in neuroimaging methods across studies, and distinct clinical phenotypes associated with C9ORF72 may account for the heterogeneity of results.
KW - Amyotrophic lateral sclerosis
KW - C9ORF72 repeat expansion
KW - Frontotemporal dementia
KW - Neuroimaging
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U2 - 10.1590/1980-57642015DN94000413
DO - 10.1590/1980-57642015DN94000413
M3 - Article
AN - SCOPUS:84951745813
SN - 1980-5764
VL - 9
SP - 413
EP - 421
JO - Dementia e Neuropsychologia
JF - Dementia e Neuropsychologia
IS - 4
ER -