2-Minute Neuroscience: Huntington's Disease

Subjects: Neurosciences
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Neuroscientifically Challenged

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Release Date: 2024-04-03

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Huntington's disease
neurodegenerative disorder
cognition
dementia
pathology
genetic disorder

Video Introduction

This video is adapted from: https://www.youtube.com/watch?v=rcFlo2fDMMs

Huntington's disease is an incurable and fatal neurodegenerative disorder characterized by movement problems and a variety of other symptoms. It is a rare example of a neurological disorder that can be traced back to a mutation in a single gene. In this video, I discuss the symptoms and pathology of Huntington's disease.^[1]

The symptoms of Huntington’s disease typically emerge during middle age and at first often involve subtle changes in personality, cognition, and movement. Eventually, the symptoms progress into substantial movement problems like chorea, which involves uncontrolled, spasmodic movements; impaired coordination and balance; muscle rigidity; and difficulty speaking and/or swallowing. Cognitive and psychiatric symptoms like dementia and depression occur as well. The disease is incurable and fatal. These symptoms are associated with neurodegeneration, or the deterioration and death of neurons. A group of structures called the basal ganglia are strongly affected, but other regions of the brain experience neurodegeneration as well.

The pathology of Huntington’s disease can be traced back to a mutation in a single gene called huntingtin. The mutation that causes Huntington’s disease is a dominant mutation. Thus, if one parent has the disease, their child has a 50% chance of developing it, too. The huntingtin gene contains a DNA sequence that consists of three nucleotides (cytosine, adenine, and guanine) in repetition---a pattern known as a trinucleotide repeat. When the gene is mutated, an excess number of repeats can occur, and a mutated form of huntingtin protein is created. The higher the number of repeats, the greater the risk of disease, and all people with 40 or more repeats in the huntingtin gene will develop Huntington’s disease. Mutated huntingtin proteins have a tendency to group together, forming clusters within neurons that are not easily removed by brain enzymes. It has been hypothesized these clusters may play a role in the neurodegeneration seen in Huntington’s disease, for their accumulation in the brain is associated with increased neurodegeneration.

References

Walker FO. Huntington's disease. Lancet. 2007 Jan 20;369(9557):218-28.

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Name: 2-Minute Neuroscience: Huntington's Disease
Uploaded: 2024-04-07T03:58:14+01:00
Description: Huntington's disease is an incurable and fatal neurodegenerative disorder characterized by movement problems and a variety of other symptoms

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Challenged, N. 2-Minute Neuroscience: Huntington's Disease. Encyclopedia. Available online: https://encyclopedia.pub/video/video_detail/1154 (accessed on 21 December 2024).

Challenged N. 2-Minute Neuroscience: Huntington's Disease. Encyclopedia. Available at: https://encyclopedia.pub/video/video_detail/1154. Accessed December 21, 2024.

Challenged, Neuroscientifically. "2-Minute Neuroscience: Huntington's Disease" Encyclopedia, https://encyclopedia.pub/video/video_detail/1154 (accessed December 21, 2024).

Challenged, N. (2024, April 03). 2-Minute Neuroscience: Huntington's Disease. In Encyclopedia. https://encyclopedia.pub/video/video_detail/1154

Challenged, Neuroscientifically. "2-Minute Neuroscience: Huntington's Disease." Encyclopedia. Web. 03 April, 2024.