automated-segmentation-cortical-grey-matter-from-t1-weighted-mri

Automated Segmentation of Cortical Grey Matter from T1-Weighted MRI Images

Within neuroimaging research, a number of recent studies have discussed the impact of between-study differences in volumetric findings that are thought to ...

UCL Institute of Neurology

The earliest white matter changes in Huntington's disease are seen before disease onset in the premanifest stage around the striatum, within the corpus callosum, and in posterior white matter tracts. While experimental evidence suggests that these changes may be related to abnormal gene transcription, we lack an understanding of the biological processes driving this regional vulnerability.

Brain Regions Showing White Matter Loss in Huntington's Disease Are Enriched for Synaptic and Metabolic Genes.

Huntington disease is a monogenic neurodegenerative disorder that displays an autosomal-dominant pattern of inheritance. It is characterized by motor, psychiatric, and cognitive symptoms that progress over 15-20 years. Since the identification of the causative genetic mutation in 1993 much has been discovered about the underlying pathogenic mechanisms, but as yet there are no disease-modifying therapies available. This chapter reviews the epidemiology, genetic basis, pathogenesis, presentation, and clinical management of Huntington disease. The principles of genetic testing are explained. We also describe recent developments in the ongoing search for therapeutics and for biomarkers to track disease progression.

Huntington disease.

Huntington's disease (HD) is the most common monogenic neurodegenerative disease and the commonest genetic dementia in the developed world. With autosomal dominant inheritance, typically mid-life onset, and unrelenting progressive motor, cognitive and psychiatric symptoms over 15-20 years, its impact on patients and their families is devastating. The causative genetic mutation is an expanded CAG trinucleotide repeat in the gene encoding the Huntingtin protein, which leads to a prolonged polyglutamine stretch at the N-terminus of the protein. Since the discovery of the gene over 20 years ago much progress has been made in HD research, and although there are currently no disease-modifying treatments available, there are a number of exciting potential therapeutic developments in the pipeline. In this chapter we discuss the epidemiology, genetics and pathogenesis of HD as well as the clinical presentation and management of HD, which is currently focused on symptomatic treatment. The principles of genetic testing for HD are also explained. Recent developments in therapeutics research, including gene silencing and targeted small molecule approaches are also discussed, as well as the search for HD biomarkers that will assist the validation of these potentially new treatments.

Article	Year
Brain Regions Showing White Matter Loss in Huntington's Disease Are Enriched for Synaptic and Metabolic Genes. Biological psychiatry\| PubMed ID: 29174593	2018
Huntington disease. Handbook of clinical neurology\| PubMed ID: 29325616	2018
Clinical Features of Huntington's Disease. Advances in experimental medicine and biology\| PubMed ID: 29427096	2018

Sarah J. Tabrizi

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