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Background: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease‐related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity. Objective: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease. Methods: We applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of 210 ataxic and 48 preataxic spinocerebellar ataxia type 3 mutation carriers and 63 healthy controls. In addition, cervical cord cross‐sectional areas were determined at 2 levels. Results: The metrics of cervical spinal cord segments C3 and C2, medulla oblongata, pons, and pallidum, and the cerebellar anterior lobe were reduced in preataxic mutation carriers compared with controls. Those of cervical spinal cord segments C2 and C3, medulla oblongata, pons, midbrain, cerebellar lobules crus II and X, cerebellar white matter, and pallidum were reduced in ataxic compared with nonataxic carriers. Of all metrics studied, pontine volume showed the steepest decline across the disease course. It covaried with ataxia severity, CAG repeat length, and age. The multivariate model derived from this analysis explained 46.33% of the variance of pontine volume. Conclusion: Regional brain and spinal cord tissue loss in spinocerebellar ataxia type 3 starts before ataxia onset. Pontine volume appears to be the most promising imaging biomarker candidate for interventional trials that aim at slowing the progression of spinocerebellar ataxia type 3. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP. [ABSTRACT FROM AUTHOR]

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Background: Cardiomyopathy is almost universal in dystrophinopathies and the leading cause of death in this population. Despite this, there are few studies that correlated cardiac structural changes with motor function in dystrophinopathies. Objective: This cross-sectional study aims to characterize myocardial tissue remodeling in patients with Duchenne and Becker muscular dystrophies (DMD/BMD) and investigate its correlation with motor function. Methods: In the same week, 27 patients with DMD and 23 with BMD aged 7 years and older and 10 sex-matched healthy individuals underwent to a comprehensive evaluation including laboratory workup, MFM-32 scale and 3.0 T cardiac magnetic resonance imaging. Results: The BMD group presented mean age of 27.1 ± 16.4 years, disease duration of 19.9 ± 14.2 years and MFM-32 score of 64.8 ± 22.0%. The DMD group presented mean age of 12.8 ± 5.3 years, disease duration of 8.0 ± 6.1 years and MFM-32 score of 53.3 ± 21.8%. Both BMD and DMD groups presented subepicardial late gadolinium enhancement (LGE) and lower LVEF values compared to controls (respectively 53.49 ± 12.82% versus 62.65 ± 2.81%, P= 0.008 and 60.43 ± 6.94% versus 62.65 ± 2.81%, P= 0.037). The LVEF values correlated directly with MFM-32 scale in BMD and DMD (respectively R= 0.73 P < 0.001 and R= 0.536 P = 0.007). DMD presented higher Native T1 than controls (1252.27 ± 62.21 ms versus 1180.59 ± 59.40 ms, P= 0.016) and BMD group presented higher ECV than controls (0.31 ± 0.07 versus 0.27 ± 0.03, P= 0.042). This parameter correlated directly with duration of disease (R= 0.66 P < 0.001) and inversely with MFM-32 (R= -0.64 P= 0.002) in BMD group, while T1 native correlated with pro-BNP levels in DMD (R= 0.51 P= 0.01). In the multiple regression model, LVEF correlated with the MFM-32 scale in the DMD group (R² adjusted= 0.22 Regression coefficient= 0.158, P= 0.031), but not with the disease duration. Conclusions: This study indicates that ECV and T1 native proved useful to detect myocardial microstructural remodelling in dystrophinopathies. Cardiac and motor function are related processes, which are driven by the amount of dystrophin underexpression. [ABSTRACT FROM AUTHOR]

Background: Major Depressive Disorder (MDD) is highly prevalent in patients with mesial temporal lobe epilepsy (MTLE), especially in women, carrying significant morbidity. This study aimed to investigate the cortical thickness (CT) abnormalities associated with MDD in women with MTLE and hippocampal atrophy (HA). Also, we investigated the impact of MDD upon the volumes of the hippocampus and amygdala in these patients. Methods: We included 50 women with MTLE and HA (20 left, LMTLE; 30 right, RMTLE), 41 healthy women in the control group, and 15 women with MDD without epilepsy. MTLE patients were subdivided into three groups: MTLE-without-MDD (23 MTLE patients without MDD), MTLE-mild-MDD (nine MTLE patients with mild symptoms of MDD), and MTLE-severe-MDD (18 MTLE patients with moderate to severe symptoms of MDD). The five groups were balanced for age ( p = 0.56). All participants had high-resolution 3D T1-weighted images in a 3T scanner. We used FreeSurfer 6.0 for volumetry and CT parcellation. All participants were submitted to a clinical psychological evaluation through the Structured Clinical Interview for DSM-IV (SCID-IV) and completed the Beck Depression Inventory (BDI-II). Results: We identified a smaller ipsilateral amygdala volume ( p = 0.04) in the MTLE-severe-MDD group when compared to the control group. Our results presented a reduced ipsilateral lateral orbitofrontal cortex ( p = 0.02) in the MTLE-severe-MDD in comparison to the MTLE-mild-MDD group. We also identified a thinner ipsilateral fusiform gyrus ( p < 0.01) in the MTLE-severe-MDD compared to both MTLE-without-MDD and control groups. A reduced CT of the contralateral superior frontal gyrus ( p = 0.02) was observed in the MTLE-severe-MDD in comparison to the MTLE-mild-MDD group. Conclusions: The identification of areas with reduced CT and atrophy of the ipsilateral amygdala in women with MTLE and MDD suggest that the cortical thinning in the network of the paralimbic system is related to the co-occurrence and intensity of depressive symptoms in this group., (Copyright © 2020 Nogueira, Pimentel da Silva, Vasques Moreira, Rezende, Zanão, Campos, Yasuda and Cendes.)