Imaging in Friedreich’s Ataxia

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

doi:10.1093/med/9780199671618.003.0024

Imaging in Friedreich’s Ataxia

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

Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other › peer-review

Abstract

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 language	English
Title of host publication	Imaging in Neurodegenerative Disorders
Editors	Luca Saba
Place of Publication	Oxford UK
Publisher	Oxford University Press
Pages	385-393
Number of pages	9
ISBN (Print)	9780199671618
DOIs	https://doi.org/10.1093/med/9780199671618.003.0024
Publication status	Published - 8 Jan 2015

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This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1093/med/9780199671618.003.0024

Cite this

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title = "Imaging in Friedreich{\textquoteright}s Ataxia",

abstract = "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.",

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T1 - Imaging in Friedreich’s Ataxia

AU - Akhlaghi, Hamed

AU - Delatycki, Martin B.

AU - Georgiou-Karistianis, Nellie

AU - Egan, Gary F.

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Y1 - 2015/1/8

N2 - 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.

AB - 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.

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