Huntington's Disease
Oliver Quarrell
Abstract
Huntington’s disease (HD)―the facts provides an overview of the condition aimed at families and carers understanding the condition. It describes the key features of: a movement disorder, disturbance of mood (affect), and problems with thinking (cognition) and behaviour. The movement problems of chorea, dystonia, and bradykinesia are explained but there is equal emphasis on depression impulsive behaviour and temper outbursts. Understanding the cause of these may help families cope better when they arise. The genetic change is discussed as is its effect on the protein huntingtin. Options for gen ... More
Huntington’s disease (HD)―the facts provides an overview of the condition aimed at families and carers understanding the condition. It describes the key features of: a movement disorder, disturbance of mood (affect), and problems with thinking (cognition) and behaviour. The movement problems of chorea, dystonia, and bradykinesia are explained but there is equal emphasis on depression impulsive behaviour and temper outbursts. Understanding the cause of these may help families cope better when they arise. The genetic change is discussed as is its effect on the protein huntingtin. Options for genetic testing of those at risk (predictive testing) as well as options for tests in pregnancy (prenatal diagnosis) and preimplantation genetic diagnosis (PGD) are described. Currently treatment is symptomatic and supportive. There is a discussion of clinical trials in general and the current huntingtin lowering studies using anti-sense oligonucleotides (ASOs) in particular. The book also includes vignettes written by family members.
Keywords:
Huntington’s disease,
chorea,
dystonia,
bradykinesia,
affect (mood),
cognition,
huntingtin,
prenatal diagnosis (PND),
preimplantation genetic diagnosis (PGD),
anti-sense oligonucleotides (ASO)
Bibliographic Information
| Print publication date: 2020 |
Print ISBN-13: 9780198844389 |
| Published to Oxford Scholarship Online: February 2021 |
DOI:10.1093/oso/9780198844389.001.0001 |
Authors
Affiliations are at time of print publication.
Oliver Quarrell, author
Consultant in Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK
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