Purpose of reviewDegenerative ataxias are rare and currently untreatable movement disorders, primarily characterized by neurodegeneration in the cerebellum and brainstem. We highlight MRI studies with the most potential for utility in pending ataxia trials and underscore advances in disease characterization and diagnostics in the field.Recent findingsWith availability of advanced MRI acquisition methods and specialized software dedicated to the analysis of MRI of the cerebellum, patterns of cerebellar atrophy in different degenerative ataxias are increasingly well defined. The field further embraced rigorous multimodal investigations to study network-level microstructural and functional brain changes and their neurochemical correlates. MRI and magnetic resonance spectroscopy were shown to be more sensitive to disease progression than clinical scales and to detect abnormalities in premanifest mutation carriers.SummaryMagnetic resonance techniques are increasingly well placed for characterizing the expression and progression of degenerative ataxias. The most impactful work has arguably come through multi-institutional studies that monitor relatively large cohorts, multimodal investigations that assess the sensitivity of different measures and their interrelationships, and novel imaging approaches that are targeted to known pathophysiology (e.g., iron and spinal imaging in Friedreich ataxia). These multimodal, multi-institutional studies are paving the way to clinical trial readiness and enhanced understanding of disease in degenerative ataxias.
|Original language||English (US)|
|Number of pages||11|
|Journal||Current Opinion in Neurology|
|State||Published - Aug 1 2020|
Bibliographical noteFunding Information:
G.Ö. is supported by the National Institutes of Health, National Ataxia Foundation and Biogen, Inc. I.H.H. is supported by the Australian National Health and Medical Research Council. K.R. and the position of J.K. are funded by the German Federal Ministry of Education and Research (BMBF 01GQ1402) and the German Research Foundation (IRTG 2150 269953372/GRK2150). K.R. is additionally supported by the German Federal Ministry of Education and Research (01DN18022), the German Research Foundation (ZUK32/1), and Alzheimer Forschung Initiative e.V (AFI 13812, NL-18002CB).
G.Ö. has received research grants from Takeda Pharmaceuticals, Inc. and Biogen, Inc. I.H.H. receives investigator-initiated research funding from Takeda Pharmaceuticals. K.R. has received honoraria for presentations or advisory boards from Lilly and Roche, as well as clinical trial grants from Pfizer, Merck, Minoryx, Biogen, and Roche.
The preparation of this manuscript was supported by the National Institute of Neurological Disorders and Stroke (NINDS) grants R01 NS080816 and U01 NS104326, the Australian National Health and Medical Research Council (Fellowship 1106533 and Grant 1184403), and the German Federal Ministry of Education and Research (BMBF 01GQ1402). The Center for Magnetic Resonance Research is supported by the National Institute of Biomedical Imaging and Bioengineering (NIBIB) grant P41 EB015894 and the NINDS Institutional Center Cores for Advanced Neuroimaging award P30 NS076408.
© 2020 Lippincott Williams and Wilkins. All rights reserved.
- Friedreich ataxia
- cerebellar multiple system atrophy
- magnetic resonance imaging
- spinocerebellar ataxia