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Huntington´s Disease – Causes, Symptoms & Treatment

Huntington's disease is a hereditary, progressive brain disorder causing uncontrolled movements, cognitive decline, and psychiatric symptoms.

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Things worth knowing about "Huntington´s Disease"

Huntington's disease is a hereditary, progressive brain disorder causing uncontrolled movements, cognitive decline, and psychiatric symptoms.

What is Huntington's Disease?

Huntington's disease (HD) is a rare, inherited, and progressive neurological disorder. It is caused by a genetic mutation in the huntingtin gene (HTT) on chromosome 4, which leads to the gradual degeneration of nerve cells in specific regions of the brain. The disease affects movement, thinking, and emotional well-being simultaneously and progresses relentlessly over many years.

Causes and Inheritance

Huntington's disease is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disease. Each child of an affected parent has a 50% chance of inheriting the mutation.

The underlying cause is an abnormal expansion of a CAG trinucleotide repeat within the HTT gene. In healthy individuals, this sequence repeats up to 35 times. In people with Huntington's disease, the repeat count is 36 or more. Generally, a higher number of repeats is associated with an earlier onset of symptoms.

Symptoms

Symptoms typically begin between the ages of 30 and 50, although earlier (juvenile-onset) or later presentations are possible. They can be grouped into three main categories:

Motor Symptoms

Chorea: Involuntary, irregular, and jerky movements affecting the whole body
Balance and coordination difficulties
Swallowing and speech problems in advanced stages
Muscle rigidity and slowed movements (more prominent in later stages)

Cognitive Symptoms

Difficulties with concentration and memory
Slowed thinking and impaired planning ability
Progressive dementia in later disease stages

Psychiatric Symptoms

Depression and anxiety
Irritability and personality changes
Obsessive-compulsive behaviors
Psychosis in rare cases

Diagnosis

The diagnosis of Huntington's disease is based on several steps:

Genetic testing: A blood test can determine the number of CAG repeats in the HTT gene and is the only definitive diagnostic method.
Neurological examination: Assessment of movement, coordination, and reflexes
Brain imaging: MRI or CT scans can reveal structural changes, particularly in the basal ganglia
Neuropsychological testing: Evaluation of cognitive functions

Individuals with an affected parent may choose to undergo predictive genetic testing before symptoms appear. This is always offered in conjunction with genetic counseling and psychological support.

Treatment

Currently, there is no cure or disease-modifying therapy for Huntington's disease. Treatment focuses on managing symptoms and improving quality of life.

Pharmacological Treatment

Tetrabenazine or deutetrabenazine: Used to reduce involuntary movements (chorea)
Antidepressants and antipsychotics: For psychiatric symptoms
Anxiolytics: For anxiety and agitation

Non-Pharmacological Treatment

Physiotherapy: To improve balance and movement coordination
Occupational therapy: To maintain independence in daily activities as long as possible
Speech therapy: To support communication and swallowing
Psychotherapy: To address depression, anxiety, and emotional challenges
Nutritional counseling: As affected individuals often have increased caloric needs

Research and Future Perspectives

Research into Huntington's disease is highly active. Promising approaches include gene therapies, RNA-based treatments (e.g., antisense oligonucleotides), and neuroprotective agents that aim to reduce or eliminate the production of the mutant huntingtin protein.

Living with Huntington's Disease

The disease places enormous emotional, social, and practical burdens on both patients and their families. Support groups, specialized HD clinics, and social services play a vital role in managing the condition. Organizations such as the Huntington's Disease Society of America (HDSA) and European Huntington's Disease Network (EHDN) provide valuable resources and support.

References

Bates, G. P. et al. (2015): Huntington disease. Nature Reviews Disease Primers, 1, 15005. DOI: 10.1038/nrdp.2015.5
Ross, C. A. et al. (2014): Huntington disease: natural history, biomarkers and prospects for therapeutics. Nature Reviews Neurology, 10(4), 204-216.
National Institute of Neurological Disorders and Stroke (NINDS): Huntington's Disease Information Page. National Institutes of Health (NIH). Available at: www.ninds.nih.gov

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