Imaging in Friedreich’s Ataxia

Hamed Akhlaghi, Martin B. Delatycki, Nellie Georgiou-Karistianis, Gary F. Egan

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Otherpeer-review


MRI is increasingly gaining acceptance as a major tool for the diagnosis of human prion diseases, also known as transmissible spongiform encephalopathies (TSEs), which include Creutzfeldt–Jakob disease (sporadic, genetic, variant, and iatrogenic), fatal familial insomnia, and Gertsmann–Strausser–Sheinker syndrome. However, the rapid cognitive decline observed in many human TSEs makes performing MRI in these patients difficult. While CT and conventional MRI sequences (such as T1 and T2 weighted acquisitions) have limited diagnostic value, fluid attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) have a very high specificity and relatively good sensitivity for the diagnosis of most TSEs. Research protocols may also include various other sequences such as magnetic resonance spectroscopy, diffusion tensor imaging, or functional MRI.
Original languageEnglish
Title of host publicationImaging in Neurodegenerative Disorders
EditorsLuca Saba
Place of PublicationOxford UK
PublisherOxford University Press
Number of pages9
ISBN (Print)9780199671618
Publication statusPublished - 8 Jan 2015

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