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Updated: Jan 28, 2026

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
New directions in therapeutics for Huntington disease
Katya T Potkin1,1, Steven G Potkin2,2
1Stony Brook School of Medicine, 101 Nicolls Rd, Stony Brook, NY 11794, USA.
Abstract:
Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disease that affects motor, cognitive and psychiatric functions, and ultimately leads to death. The pathology of the disease is based on an expansion of CAG repeats in exon 1 of the huntingtin gene on chromosome 4, which produces a mutant huntingtin protein (mHtt). This protein is involved in neurotoxicity and brain atrophy, and can form β-sheets and abnormal mHtt aggregates. Currently, there are no approved effective treatments for HD, although tetrabenazine (Xenazine™) and deutetrabenazine (AUSTEDO™) have been approved for treatment of the motor symptom chorea in HD. This literature review aims to address the latest research on promising therapeutics based on influencing the hypothesized pathological mechanisms.
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