Huntington's disease: a clinical review

Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6–13.7 individuals per 100 000. It is characterized by cognitive,...

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Vydáno v:European journal of neurology Ročník 25; číslo 1; s. 24 - 34
Hlavní autoři: McColgan, P., Tabrizi, S. J.
Médium: Journal Article
Jazyk:angličtina
Vydáno: England John Wiley & Sons, Inc 01.01.2018
Témata:
Antisense oligonucleotides
Brain
Brain - pathology
Cellular structure
Chromosome 4
Clinical trials
Cognitive ability
Disease control
Disease Management
Genetic Testing
Humans
Huntingtin
Huntingtin Protein - genetics
Huntington Disease - diagnosis
Huntington Disease - genetics
Huntington Disease - pathology
Huntington's disease
Huntingtons disease
Medical research
Medical treatment
Mitochondria
Mitochondria - genetics
movement disorders
Neostriatum
neurogenetics
Neurons - pathology
Polyglutamine
Toxicity
Transcription
Trinucleotide Repeat Expansion
Trinucleotide repeats
Huntington's disease
neurogenetics
movement disorders
ISSN:1351-5101, 1468-1331, 1468-1331
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Popis
Shrnutí:Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6–13.7 individuals per 100 000. It is characterized by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein. Early macroscopic changes are seen in the striatum with involvement of the cortex as the disease progresses. There are currently no disease modifying treatments; therefore supportive and symptomatic management is the mainstay of treatment. In recent years there have been significant advances in understanding both the cellular pathology and the macroscopic structural brain changes that occur as the disease progresses. In the last decade there has been a large growth in potential therapeutic targets and clinical trials. Perhaps the most promising of these are the emerging therapies aimed at lowering levels of mutant huntingtin. Antisense oligonucleotide therapy is one such approach with clinical trials currently under way. This may bring us one step closer to treating and potentially preventing this devastating condition.
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ISSN:1351-5101
1468-1331
1468-1331
DOI:10.1111/ene.13413