METHOD FOR DIAGNOSING PARKINSON'S DISEASE ASSOCIATED WITH MUTATIONS IN GLUCOCEREBROSIDASE (GBA) GENE Russian patent published in 2021 - IPC G01N33/68 

FIELD: medicine, neurology in particular.

SUBSTANCE: invention relates to the field of medicine, in particular to neurology and clinical laboratory diagnostics, and is intended for the diagnosis of Parkinson's disease associated with mutations in the glucocerebrosidase (GBA) gene. The concentration of lysosphingolipid hexosylsphingosine (HexSph), which is a mixture of the lysosphingolipids glucosylsphingosine (GlcSph) and galactosylsphingosine (GalSph), is measured in the blood. The threshold of HexSph concentration is determined in the primary culture of blood macrophages obtained from human blood monocytes, which are applied to filter cards at a concentration of 2 * 10⁶ cl/ml. At a HexSph concentration of more than 32.15 ng/ml, heterozygous carriers of a mutation in the GBA gene are diagnosed with Parkinson's disease.

EFFECT: invention provides a marker for the diagnosis of the onset of Parkinson's disease associated with mutations in the GBA gene in a group of heterozygous carriers of mutations in the GBA gene.

1 cl, 2 dwg, 1 ex