Structural signature of classical versus late‐onset friedreich's ataxia by Multimodality brain M<scp>RI</scp>

Rezende, Thiago Junqueira Ribeiro de; Martinez, Alberto Rolim Muro; Faber, Ingrid; Girotto, Karen; Pedroso, José Luiz; Barsottini, Orlando Graziani Póvoas; Lopes-Cendes, Íscia; Cendes, Fernando; Faria, Andréia V.; França, Marcondes C.

doi:10.1002/hbm.23655

Cited by 13 publications

(14 citation statements)

References 38 publications

(57 reference statements)

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“…Cortical thinning was not found in patients with yFRDA, but only in the adult group. The results for the aFRDA group are in line with previous neuroimaging studies . In addition, we observed that only adult patients presented supratentorial damage, whereas the yFRDA group showed essentially infratentorial involvement.…”

Section: Discussionsupporting

confidence: 92%

“…We performed a multimodal MRI‐based analysis to assess gray and white matter, as described by Rezende et al . (Appendix S1).…”

Section: Methodsmentioning

confidence: 99%

“…We submitted all subjects to a high-resolution MRI on a 3T Achieva scanner (Phillips, Amsterdam, Netherlands). We performed a multimodal MRI-based analysis to assess gray and white matter, as described by Rezende et al [12] (Appendix S1).…”

Section: Methodsmentioning

confidence: 99%

“…Patients with concomitant neurological disorders, those unable to undergo MRI scans and those with significant motion artifacts on images were excluded. In addition, 23 of the 25 adult patients have been previously reported . However, this study aimed to identify anatomical substrates selectively involved in patients with yFRDA.…”

Section: Methodsmentioning

confidence: 99%

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Developmental and neurodegenerative damage in Friedreich's ataxia

Rezende

Martínez

Faber

et al. 2018

Euro J of Neurology

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Background and purpose Friedreich's ataxia (FRDA) is the most common autosomal‐recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities and slowly progressive ataxia. All magnetic resonance imaging (MRI)‐based studies have focused on the evaluation of adult patients. Therefore, we designed a cross‐sectional multimodal MRI‐based study to investigate the anatomical substrates involved in the early stages of FRDA. Methods We enrolled 37 patients (12 children) and 38 controls. All subjects underwent MRI in a 3T device to assess gray and white matter. We used measures from FreeSurfer and CERES to evaluate the cerebral and cerebellar cortices. The T1 multiatlas assessed deep gray matter. The diffusion tensor imaging multiatlas was used to investigate microstructural abnormalities in brain white matter and SpineSeg was used to assess the cervical spinal cord. All analyses were corrected for multiple comparisons. Results Comparison with age‐matched controls showed that pediatric patients have spinal cord, inferior cerebellar peduncle and red nucleus damage. In contrast, adult patients showed more widespread white matter damage than pediatric patients. With regard to gray matter, we found cortical thinning at the left central sulcus and volumetric reduction in the thalami and hippocampi only in adult patients. Finally, values of fractional anisotropy in adult patients and radial diffusivity in pediatric patients from the inferior cerebellar peduncle correlated with disease duration and ataxia severity, respectively. Conclusions Structural damage in FRDA begins in the spinal cord and inferior cerebellar peduncle as well as the red nucleus, and progresses to cerebral areas in adulthood. These results shed some light on the early stages of FRDA and highlight potential neuroimaging markers for therapeutic trials.

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Section: Discussionsupporting

confidence: 92%

“…We performed a multimodal MRI‐based analysis to assess gray and white matter, as described by Rezende et al . (Appendix S1).…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Developmental and neurodegenerative damage in Friedreich's ataxia

Rezende

Martínez

Faber

et al. 2018

Euro J of Neurology

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“…In addition, our population had an older mean age at onset than reported (20.4 ± 13.7 versus 15.5 ± 10.4 in a 2year cohort study [54] that makes generalization of our results more hazardous. In fact, patients with onset after 25 years may have different phenotypic and brain structural features compared to classical FRDA [55].…”

Section: Discussionmentioning

confidence: 99%

Personality and Neuropsychological Profiles in Friedreich Ataxia

et al. 2017

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Friedreich ataxia, an autosomal recessive mitochondrial disease, is the most frequent inherited ataxia. Many studies have attempted to identify cognitive and affective changes associated with the disease, but conflicting results have been obtained, depending on the tests used and because many of the samples studied were very small. We investigated personality and neuropsychological characteristics in a cohort of 47 patients with genetically confirmed disease. The neuropsychological battery assessed multiple cognition domains: processing speed, attention, working memory, executive functions, verbal memory, vocabulary, visual reasoning, emotional recognition, and social cognition. Personality was assessed with the Temperament and Character Inventory, and depressive symptoms were assessed with the Beck Depression Inventory. We found deficits of sustained attention, processing speed, semantic capacities, and verbal fluency only partly attributable to motor deficit or depressed mood. Visual reasoning, memory, and learning were preserved. Emotional processes and social cognition were unimpaired. We also detected a change in automatic processes, such as reading. Personality traits were characterized by high persistence and low self-transcendence. The mild cognitive impairment observed may be a developmental rather than degenerative problem, due to early cerebellum dysfunction, with the impairment of cognitive and emotional processing. Disease manifestations at crucial times for personality development may also have an important impact on personality traits.

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