Dados do Trabalho

Título

Strutuctural Damage in Dystrophinopathies: a multimodal neuroimaging study.

Resumo

Introduction: Dystrophinopathy is a X-linked recessive progressive neuromuscular disorder characterezed by muscle weakness. Dystrophinoapthies are also characterized by central nervous system damage, but pattern and extent of such damage are not yet clear. For this reason, we designed a cross-sectional multimodal MRI-based study to address this point.

Methods: Mean age of patients and disease duration were 12 and 8, respectively. We enrolled 50 patients (40 duchenne and 10 becker) and 40 age-sex matched controls. All subjects underwent MRI in a 3T device to assess gray (GM) and white matter (WM). To evaluate the cerebral and cerebellar cortices, we used measures from FreeSurfer. DTI-multiatlas was used to investigate microstructural-abnormalities in cerebral WM. All analyses were corrected for multiple comparisons.

Results: Group analyses showed WM microestructural abnormalieties at bilateral fornix, being characterized by increased axial, medial and radial difussivities, with large effect sizes (>0.8) for all significant diffusion parameters. We also found a negative correlation between axial diffusivity and Motor Functional Measure scale (r=-0.338, p=0.022) of such structure. Regarding volumetric analysis, patients showed volumetric reduction of both left thalamus and cerebellar cortex.

Conclusion: Patients with dystrophinopathies are characterized by structural damage at fornix, thalamus and cerebellar cortex. Such structural signature helps us to understand some phenotypic traits in this disease. Our results also shed some light in the dystrophinopathy pathogenesis and highlight potential neuroimaging marker for therapeutic trials.

Palavras Chave

Dystrophinopathy, duchenne, becker, brain damage, neuroimaging study

Área

Doenças Neuromusculares