Developmental and neurodegenerative damage in Friedreich's ataxia
| Autor: | Melina Pazian Martins, Fernando Cendes, Ingrid Faber, Iscia Lopes-Cendes, Marcondes C. França, Alberto R. M. Martinez, K. A. Girotto Takazaki, Thiago Junqueira Ribeiro de Rezende, F. D. de Lima |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Ataxia Inferior cerebellar peduncle Adolescent White matter 03 medical and health sciences Young Adult 0302 clinical medicine Neuroimaging Fractional anisotropy medicine Humans 030212 general & internal medicine Gray Matter Child Aged medicine.diagnostic_test business.industry Magnetic resonance imaging Middle Aged Spinal cord Magnetic Resonance Imaging White Matter medicine.anatomical_structure Cross-Sectional Studies Neurology Friedreich Ataxia Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Diffusion MRI |
| Zdroj: | European journal of neurology. 26(3) |
| ISSN: | 1468-1331 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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