Skip to main content

Or 34,00 After 66% tax deduction

I make a monthly donation I make an IFI donation
Equipe DURR Huntington

Huntington's disease

Causes, biological mechanisms, symptoms, diagnosis and treatment

Last update: 04/10/2024 Reading time: 1min

Huntington's disease, formerly known as Huntington's chorea, is a rare, hereditary neurological disorder first described by Georges Huntington, a general practitioner, in 1872. It manifests itself in adulthood as motor, cognitive and psychiatric disorders that progressively worsen.

There are around 10 cases of Huntington's disease per 100,000 individuals. Onset is between the ages of 35 and 50, with the same prevalence in men and women. In 10% of cases, the disease appears before the age of 20.

In France, 18,000 people are affected, of whom only 6,000 currently show symptoms, and around 12,000 carriers of the mutated huntingtin gene remain asymptomatic to this day.

22.11.2022  Understanding Huntington's disease in 2 minutes
Causes and mechanisms

The causes and biological mechanisms of Huntington's disease

Huntington's disease is a hereditary genetic disorder caused by an expansion of a CAG motif in the gene coding for the huntingtin protein. It is transmitted in an autosomal dominant fashion: one heterozygous copy of the expansion is sufficient to develop the disease later in life. Descendants of people with this disease have a 50% risk of inheriting the expansion.

Symptoms and diagnosis

Symptoms and diagnosis of Huntington's disease

Symptoms of Huntington's disease often appear between the ages of 30 and 50, with the onset of motor disorders, including chorea, and anxiety and depressive disorders, which are mainly noticed by family and friends and can be treated with effective symptomatic therapy once the symptoms have set in.

Motor symptoms generally include abnormal, abrupt, jerky, involuntary movements of all 4 limbs, impaired balance and dysarthria. From a cognitive point of view, patients experience a slowdown in information processing, difficulty in planning actions and, over time, memory and concentration problems.

These problems are rapidly associated with behavioural disorders such as irritability, anxiety and apathy, leading to a subcortico-frontal syndrome.

The initial diagnosis is based on the signs presented by the patients and can be confirmed by genetic analysis, of which the family must be informed beforehand. Once the expansion has been identified, the families concerned can seek genetic counselling to find out whether or not they are carriers of the mutation, and can consequently undergo prenatal or pre-implantation diagnosis in the event of a parental project.

Treatments

Treatments for Huntington's disease

There is no cure for Huntington's disease, but various symptomatic treatments can be suggested. Suitable neuroleptics, dopaminergic inhibitors and antidepressants reduce motor and psychiatric signs and sleep disorders. Physiotherapy and speech therapy are necessary and effective. Psychological counselling is important, both for managing the symptoms of the disease and for supporting the patient and his or her family. Social support is crucial.

Our news on the subject

image
Huntington's disease: brain abnormalities detectable as early as the embryonic stage
Huntington's disease is a genetic neurological disorder that generally appears in adulthood. Teams of researchers and clinicians at the Grenoble Institute of Neuroscience (Inserm/Grenoble Alpes University) and the Brain Institute (Inserm/Sorbonne ...
07.17.2020 Research, science & health
huntington
A gene involved in Huntington’s disease progression
Huntington’s disease, which affects about 6 000 individuals in France, is characterized by the progressive outbreak of motor, behavioral and cognitive disorders. Researchers from Alexis Brice’s team have participated in a collaborative project aiming ...
12.19.2016 Research, science & health
Imagerie de la maladie de Huntington
Hopes for Huntington disease
The innovative results of a study on the effects of a synthetic oil on brain metabolism in Huntington disease, performed by researchers in the Institut du Cerveau - ICM were just published in the journal Neurology. ...
01.08.2015 Research, science & health
See all our news