Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar ataxias (SCA) and its correlations with well-established clinical and molecular disease markers.

Background: PolyQ-SCAs are autosomal dominant slowly progressive neurodegenerative diseases with no current treatment. MRI is the best-studied surrogate biomarker candidate for PolyQ-SCA, although, with conflicting results.

Methods: We searched Medline, LILACS and Cochrane database of clinical trials between January 1995 and October 2015, for quantitative MRI studies comparing PolyQ-SCAs with controls. Pertinent details for each study regarding participants, imaging methods, and results were extracted.

Results: Reviewing the 693 results, 18 studies were suitable for inclusion; 2 studies in SCA1, 1 in SCA2, 15 in SCA3, 1 in SCA7, and 1 in SCA1 and SCA6 presymptomatic carriers. The cerebellar hemispheres and vermis, whole brainstem, midbrain, pons, medulla oblongata, cervical spine, striatum and thalamus presented significant atrophy in SCA3. The caudate, putamen and whole brainstem presented similar sensitivity to change compared to ataxia scales after two years of follow-up in a single prospective study in SCA3. Magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) showed abnormalities in cross-sectional studies in SCA3. Results from single studies in other PolyQ SCA should be replicated in different cohorts.

Conclusions: Additional cross-sectional and prospective volumetric analysis, MRS and DTI studies are necessary in PolyQ SCAs. The property of preclinical disease biomarker of MRI should be targeted in future studies in presymptomatic individuals.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/magnetic-resonance-imaging-in-spinocerebellar-ataxias-a-systematic-review/