Magnetic Resonance Imaging and Its Clinical Correlation in Spinocerebellar Ataxia Type 3: A Systematic Review

Abstract

BackgroundSpinocerebellar ataxia type 3 (SCA3) is a complex cerebrocerebellar disease primarily characterized by ataxia symptoms alongside motor and cognitive impairments. The heterogeneous clinical presentation of SCA3 necessitates correlations between magnetic resonance imaging (MRI) and clinical findings in reflecting progressive disease changes. At present, an attempt to systematically examine the brain-behavior relationship in SCA3, specifically, the correlation between MRI and clinical findings, is lacking.ObjectiveWe investigated the association strength between MRI abnormality and each clinical symptom to understand the brain-behavior relationship in SCA3.MethodsWe conducted a systematic review on Medline and Scopus to review studies evaluating the brain MRI profile of SCA3 using structural MRI (volumetric, voxel-based morphometry, surface analysis), magnetic resonance spectroscopy, and diffusion tensor imaging, including their correlations with clinical outcomes.ResultsOf 1,767 articles identified, 29 articles met the eligibility criteria. According to the National Institutes of Health quality assessment tool for case-control studies, all articles were of excellent quality. This systematic review found that SCA3 neuropathology contributes to widespread brain degeneration, affecting the cerebellum and brainstem. The disease gradually impedes the cerebral cortex and basal ganglia in the late stages of SCA3. Most findings reported moderate correlations (r = 0.30–0.49) between MRI features in several regions and clinical findings. Regardless of the MRI techniques, most studies focused on the brainstem and cerebellum.ConclusionsClinical findings suggest that rather than individual brain regions, the connectivity between different brain regions in distributed networks (i.e., cerebellar-cerebral network) may be responsible for motor and neurocognitive function in SCA3. This review highlights the importance of evaluating the progressive changes of the cerebellar-cerebral networks in SCA3 patients, specifically the functional connectivity. Given the relative lack of knowledge about functional connectivity on SCA3, future studies should investigate possible functional connectivity abnormalities in SCA3 using fMRI.

Functional Alteration in the Brain Due to Tumour Invasion in Paediatric Patients: A Systematic Review

“…Two independent researchers conducted a systematic search using the National Centre for Biotechnology Information (PubMed) electronic database. The preferred reporting items for systematic reviews and meta-analyses guidelines (PRISMA) [ 16 ] and previous studies [ 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ] were used as the reporting guidelines ( Figure 1 ). The search was performed to identify studies reporting functional magnetic resonance imaging (fMRI) and brain tumours in paediatric patients below 18 years old.…”

Combinational treatments of RNA interference and extracellular vesicles in the spinocerebellar ataxia

“…Conventional diagnostic methods for SCA have shortcomings and cannot accurately monitor the disease progression. Existing measurements of protein biomarkers such as NfL in CSF and blood fail to locate the site of injury (Yap et al, 2022a). Ataxin-3 produced by polyQ amplification in plasma is highly stable only for 1 year (Hübener-Schmid et al, 2021).…”

“…The traditional diagnostic methods for SCA include three aspects: (1) MRI can only show the pathological changes of extensive atrophy of the brain and thinning of the cortex, which lacks the functional changes corresponding to the pathological changes. Meanwhile, MRI is very expensive ( Yap et al, 2022a ). (2) The diagnosis of symptomatology is easily affected by subjectivity.…”

Voxel-based meta-analysis of gray matter and white matter changes in patients with spinocerebellar ataxia type 3

“…These inconsistent findings may be because the subjects in each study were uneven or the sample size was relatively small. Recently, a systematic review of 29 studies described GMV changes in the cerebral cortex, subcortical, brainstem, and cerebellar and WMV change in the cerebellar region in SCA3 patients compared to HCs and revealed moderate correlations between MRI features in these regions and clinical manifestations of ataxia, non-ataxia, and cognitive function ( 19 ). Eight of these studies analyzed VBM changes in damaged brain areas in patients with SCA3 ( 5 , 8 – 11 , 13 , 18 , 20 ).…”