TY - JOUR
T1 - Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI
AU - Rezende, Thiago Junqueira R.
AU - Martinez, Alberto Rolim M.
AU - Faber, Ingrid
AU - Girotto, Karen
AU - Pedroso, José Luiz
AU - Barsottini, Orlando G.
AU - Lopes-Cendes, Iscia
AU - Cendes, Fernando
AU - Faria, Andreia V.
AU - França, Marcondes C.
N1 - Funding Information:
Fundação de Amparo à Pesquisa do Estado de São Paulo – FAPESP, São Paulo, Brazil. Drs MCFJ, JLP, IL-C, FC, JLP, OGB, and ILC are supported by FAPESP and CNPq (Conselho Nacional de Pesquisa-BRAZIL). Dr AVF is supported by NIH (National Institute of Health). TJRB and ARMM receive a PhD scholarship from FAPESP (Grant #2014/19786–7 and 2013/26410–0), IF receives a PhD scholarship from CAPES (Coordenação de Aperfeiçoamento de pessoal de nível superior-BRAZIL). The funding agencies did not interfere with the design of the study, collection of data, or drafting of the manuscript.
Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/8
Y1 - 2017/8
N2 - Introduction: Friedreich's ataxia (FRDA) is the most common autosomal-recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and are classified as late-onset FRDA (LOFA). Therefore, we propose a transversal multimodal MRI-based study to investigate which anatomical substrates are involved in classical (cFRDA) and LOFA. Methods: We enrolled 36 patients (13 with LOFA) and 29 healthy controls. All subjects underwent magnetic resonance imaging in a 3 T device; three-dimensional high-resolution T1-weighted images and diffusion tensor images were used to assess gray and white matter, respectively. We used T1 multiatlas approach to assess deep gray matter and cortical thickness measures to evaluate cerebral cortex and DTI multiatlas approach to assess white matter. All analyses were corrected for multiple comparisons. Results: Group comparison showed that both groups presented gray matter atrophy mostly in the motor cortex. Regarding white matter, we found abnormalities in the cerebellar peduncles, pyramidal tracts, midbrain, pons, and medulla oblongata for both groups, but the microstructural abnormalities in the cFRDA group were more widespread. In addition, we found that the corticospinal tract presented more severe microstructural damage in the LOFA group. Finally, the midbrain volume of the cFRDA, but not of the LOFA group, correlated with disease duration (R = −0.552, P = 0.012) and severity (R = −0.783, P < 0.001). Conclusion: The cFRDA and LOFA groups have similar, but not identical neuroimaging damage pattern. These structural differences might help to explain the phenotypic variability observed in FRDA. Hum Brain Mapp 38:4157–4168, 2017.
AB - Introduction: Friedreich's ataxia (FRDA) is the most common autosomal-recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and are classified as late-onset FRDA (LOFA). Therefore, we propose a transversal multimodal MRI-based study to investigate which anatomical substrates are involved in classical (cFRDA) and LOFA. Methods: We enrolled 36 patients (13 with LOFA) and 29 healthy controls. All subjects underwent magnetic resonance imaging in a 3 T device; three-dimensional high-resolution T1-weighted images and diffusion tensor images were used to assess gray and white matter, respectively. We used T1 multiatlas approach to assess deep gray matter and cortical thickness measures to evaluate cerebral cortex and DTI multiatlas approach to assess white matter. All analyses were corrected for multiple comparisons. Results: Group comparison showed that both groups presented gray matter atrophy mostly in the motor cortex. Regarding white matter, we found abnormalities in the cerebellar peduncles, pyramidal tracts, midbrain, pons, and medulla oblongata for both groups, but the microstructural abnormalities in the cFRDA group were more widespread. In addition, we found that the corticospinal tract presented more severe microstructural damage in the LOFA group. Finally, the midbrain volume of the cFRDA, but not of the LOFA group, correlated with disease duration (R = −0.552, P = 0.012) and severity (R = −0.783, P < 0.001). Conclusion: The cFRDA and LOFA groups have similar, but not identical neuroimaging damage pattern. These structural differences might help to explain the phenotypic variability observed in FRDA. Hum Brain Mapp 38:4157–4168, 2017.
KW - Friedreich's ataxia
KW - LOFA
KW - MRI
KW - cortical thickness
KW - multiatlas approach
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U2 - 10.1002/hbm.23655
DO - 10.1002/hbm.23655
M3 - Article
C2 - 28543952
AN - SCOPUS:85019567990
VL - 38
SP - 4157
EP - 4168
JO - Human Brain Mapping
JF - Human Brain Mapping
SN - 1065-9471
IS - 8
ER -