Titlebook: Biomarkers for Huntington‘s Disease; Improving Clinical O Elizabeth A. Thomas,Georgia M. Parkin Book 2023 The Editor(s) (if applicable) and

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https://doi.org/10.1007/978-3-8350-9626-4ons and cognitive decline. The specific mutation responsible for HD is an expanded CAG repeat in exon 1 of the Huntington gene. This mutation can now be easily detected through genetic testing, allowing for confirmation of the genetic status in individuals at risk of developing HD, which occurs at a

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https://doi.org/10.1007/978-3-322-95093-2e only portion of the central nervous system that is optically accessible for high-resolution imaging. Over the last several decades there has been significant interest in leveraging the optical accessibility of the retina to understand, diagnose and monitor neurological diseases such as Huntington’

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Wolfgang H. C. Junge,Martina Jungegenesis of HD is progressive with a long premanifest phase in which subtle changes in the brain occur up to two decades before the onset of clinical symptoms. Early biomarkers reflecting the subtle changes in the HD brain for better understanding disease progression and evaluating treatment efficacy

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