Huntington’s disease

Huntington’s disease is an inherited, progressive neuropsychiatric condition associated with a triad of behavioural, cognitive, and motor difficulties¹. This can include involuntary jerking movements; difficulties in speaking, memory, and concentration; and the development of depressive symptoms^{2, 3}.

Huntington’s disease affects ~7 people in every 100,000 in the developed world and usually begins in middle age (30 - 45 years). Over time, symptoms worsen leading to progressive functional impairment.

Cognitive impairment is found up to ten years before Huntington’s disease is able to be diagnosed using existing methods⁴.

 

Pathology and functional impact of Huntington’s disease

In Huntington’s disease, there is a mutation of the ‘Huntingtin’ gene, in which there are excess cytosine-adenine-guanine (CAG) repeat genetic sequences. This results in the production of a pathological misfolded protein that interferes with normal function of the brain⁴.

Although the genetic abnormality is expressed in cells throughout the body, in the early stages the striatum (part of the mid-brain responsible for motivated behaviour) is particularly affected; while in later disease, the pathology spreads to the cortex (involved in higher cognitive functions)⁴. 

 

Research and development in Huntington’s disease

If symptoms of Huntington’s disease are suspected, individuals are typically referred to a neurologist for a more detailed assessment and investigation. Genetic testing can be used to confirm the diagnosis.

Comprehensive treatment of Huntington’s disease should involve an individualised, multidisciplinary approach, with regular follow-up.

Many types of treatment are available that can provide symptomatic relief in Huntington’s disease, to maximise comfort, dignity, and independence. It is helpful to focus treatments on specific target areas⁵. For example, psychotherapy can be helpful for coming to terms with the disorder and its consequences, and in the treatment of comorbid depression.

Medications can be helpful for low mood and excessive motor movements. Other forms of therapy including occupational therapy and speech and language therapy can be useful to maximise everyday function. Various types of support can also be helpful for family members and carers. 

Disease-modifying treatments and interventions that can significantly slow down the progression of the disease or halt the underlying pathological processes represent a key unmet need⁶.

 

You might also be interested in…

Novak M.J., and Tabrizi S.J., (2010). Huntington's disease. BMJ.

Papoutsi M., et al (2014). The cognitive burden in Huntington's disease: pathology, phenotype, and mechanisms of compensation. Mov Disord.

Mason S., and Barker R.A., (2015). Progress in Huntington's disease: the search for markers of disease onset and progression. J Neurol.

Ho A.K., et al (2003). Profile of cognitive progression in early Huntington's disease. Neurology.

Pavese N., et al (2003). Progressive striatal and cortical dopamine receptor dysfunction in Huntington's disease: a PET study. Brain. 

 

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1. _{Marshall, Frederick J. Clinical Features and Treatments of Huntington’s disease. Clinical Disorders Chapter 35, 2004.}
2. _{World Health Organisation Genomic Resource Centre, 2015.}
3. _{Novak MJ, Tabrizi SJ. Huntington's disease. BMJ. 2010 Jun 30;340:c3109.}
4. _{Papoutsi M, Labuschagne I, Tabrizi SJ, Stout JC. The cognitive burden in Huntington's disease: pathology, phenotype, and mechanisms of compensation. Mov Disord. 2014 Apr 15;29(5):673-83.}
5. _{NHS Choices Website, 2015.}
6. _{Mason S, Barker RA. Progress in Huntington's disease: the search for markers of disease onset and progression. J Neurol. 2015 Mar 21}