Marie-Boveri Disease

Marie-Boveri disease is a rare hereditary disease characterized by progressive ataxia, dementia and dementia.

This autosomal recessive disorder was first described by French neurologist Pierre Marie in 1922. In 1926, the Italian pathologist Theodore Boveri discovered changes in the nerve cells of the cerebellum characteristic of this disease.

The main symptoms of Marie-Boveri disease are incoordination, intention tremor, dysarthria, nystagmus and progressive dementia. As a rule, the first symptoms appear between the ages of 30 and 50 years.

Treatment of Marie-Boveri disease consists of symptomatic therapy to improve the quality of life of patients. There are currently no effective treatments for this disease. The prognosis is poor, with the average life expectancy after the onset of symptoms being 7-10 years.

Marie-Boveri Disease is a rare genetic disease that manifests as progressive neurological symptoms in young people. The disease is named after the French scientists Marie-Bovary and Bovary, who described it in 1907.

Symptoms of Marie-Bovary disease manifest themselves in the form of decreased sensitivity and impaired motor function. At the onset of the disease, patients may have difficulty walking and then gradually lose the ability to move. Deterioration of vision and hearing, headaches and other neurological symptoms are also observed.

The cause of the disease is still unknown, but genetic studies indicate an association with mutations in the NF1 gene (neurofibromatosis type 1). Patients with Marie-Bovary disease often have tumors in the brain, which may be associated with dysfunction of the NF1 gene.

Treatment for the disease may include medication, surgery, and physical therapy. However, in most cases, the prognosis for patients with Marie-Bovary disease is unfavorable, as the disease progresses and leads to disability.