Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Mo-Fr: 9:00 - 17:00

A detailed clinical and genetic analysis of Russian patients with neurodegeneration with brain iron accumulation type 4

Neurodegeneration with iron deposition in brain of type 4 is a rare autosomal recessive neurological disease characterized by a combination of pyramidal and extrapyramidal symptoms and MRI signs of iron accumulation in the subcortical structures of the brain - mainly in the globus pallidus and substantia nigra.

The study by RCMG researchers carried out jointly with colleagues from the Russian Children's Clinical Hospital, Genomed and Genetico laboratories, described 17 patients (the 3rd largest sample in the world). The study identified 3 previously undescribed pathogenic variants and for the first time calculated the disease incidence among the Russian population.

Sparber, Peter, et al. "Retrospective analysis of 17 patients with Mitochondrial Membrane Protein-Associated Neurodegeneration diagnosed in Russia." Parkinsonism & Related Disorders (2021). (Q1, IF - 3,9)