Huntington disease

The Huntington disease is a dominant autosomal genetic neurodegenerative disease. There is, in France, Around 6000 patients suffering from Huntington disease. Prevalency is estimated around 1/10000. The incriminated gene is situated on the chromosome 4 and exhibits an excessive amount of CAG nucleotide triplets. The abnormal proteins produced do not work properly and induce the disease symptoms. The clinical symptoms appears around 35 to 45 years and include motor disorders (involuntary movements of the limbs and head and/or Parkinson syndromes), psychiatric and cognitive disorders. A validation diagnosis is made by looking for the over-numerous CAG triplets using blood biomolecular analyses. The clinical care is multidisciplinary: currently, treatments are only symptomatic and associate drugs, non-pharmaceutical therapies (physiotherapy, speech therapy) and social care.

Some clinical trials are under investigation aiming to slow down the disease progression or testing genetic therapies. In the patient family, a presymptomatic diagnosis is possible with a genetic counseling medical team. If a new child birth is planned for the patient couple or for close relatives, a prenatal or preimplantation diagnosis is possible through an in-vitro fecundation process in a specialized center.