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Magnetic Resonance Spectroscopy in Ataxias

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Part of the Contemporary Clinical Neuroscience book series (CCNE)

Abstract

Ataxia refers to deficits in coordination of movement and balance. This chapter focuses on recessively and dominantly inherited as well as sporadic degenerative ataxias. These diseases are characterized by neurodegeneration in the cerebellar system, including the cerebellum and its afferent and efferent connections, and frequently also in other brain regions such as the pontine nuclei. They display great pathological diversity, as well as phenotypic variability; thus there is a great need for imaging biomarkers that reflect the underlying pathology and that can be used for diagnostic, prognostic, and treatment monitoring purposes. Despite technical challenges of magnetic resonance spectroscopy (MRS) in the cerebellum and brainstem, MRS has been shown to be sensitive to neurochemical alterations in various degenerative ataxias. Namely, early neurochemical abnormalities have been detected by MRS in ataxias prior to the structural atrophy detectable by conventional MRI and prior to symptoms. Correlations with clinical status and pathological severity were demonstrated in clinical and animal model studies, respectively. MRS was also shown to distinguish different ataxia subtypes, with potential utility in differential diagnosis, especially valuable for sporadic ataxias in the absence of genetic testing. Finally, a few studies have utilized MRS for treatment monitoring in clinical trials of recessive ataxias, and a great need exists in this area for all degenerative ataxias. More longitudinal investigations and standardization of advanced MRS methodology for multi-site trials will be critical in this respect.

Keywords

Spinocerebellar ataxia Friedreich’s ataxia Multiple system atrophy Ataxia-telangiectasia Ataxia with oculomotor apraxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay 

Notes

Acknowledgements

The preparation of this chapter was in part supported by the National Institute of Neurological Disorders and Stroke (NINDS) grant R01 NS070815. The Center for MR Research is supported by the National Institute of Biomedical Imaging and Bioengineering (NIBIB) grant P41 EB015894 and the Institutional Center Cores for Advanced Neuroimaging award P30 NS076408.

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© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Department of Radiology, Center for Magnetic Resonance ResearchUniversity of MinnesotaMinneapolisUSA
  2. 2.Department of Laboratory Medicine and PathologyUniversity of MinnesotaMinneapolisUSA

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