Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 4157-4168 |
| Number of pages | 12 |
| Journal | Human Brain Mapping |
| Volume | 38 |
| Issue number | 8 |
| DOIs | |
| State | Published - Aug 1 2017 |
Fingerprint
Keywords
- cortical thickness
- Friedreich's ataxia
- LOFA
- MRI
- multiatlas approach
ASJC Scopus subject areas
- Anatomy
- Radiological and Ultrasound Technology
- Radiology Nuclear Medicine and imaging
- Neurology
- Clinical Neurology
Cite this
Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI. / Rezende, Thiago Junqueira R.; Martinez, Alberto Rolim M.; Faber, Ingrid; Girotto, Karen; Pedroso, José Luiz; Barsottini, Orlando G.; Lopes-Cendes, Iscia; Cendes, Fernando; Faria, Andreia Vasconcellos; França, Marcondes C.
In: Human Brain Mapping, Vol. 38, No. 8, 01.08.2017, p. 4157-4168.Research output: Contribution to journal › Article
}
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 Vasconcellos
AU - França, Marcondes C.
PY - 2017/8/1
Y1 - 2017/8/1
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 - cortical thickness
KW - Friedreich's ataxia
KW - LOFA
KW - MRI
KW - multiatlas approach
UR - http://www.scopus.com/inward/record.url?scp=85019567990&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85019567990&partnerID=8YFLogxK
U2 - 10.1002/hbm.23655
DO - 10.1002/hbm.23655
M3 - Article
VL - 38
SP - 4157
EP - 4168
JO - Human Brain Mapping
JF - Human Brain Mapping
SN - 1065-9471
IS - 8
ER -