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Senkevich K.A.

Institute of Experimental Medicine, St. Petersburg, Russia;
Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia;
National Research Center «Kurchatov Institute» Konstantinov Petersburg Nuclear Physics Institute, St. Petersburg, Russia

Miliukhina I.V.

FGBU "Nauchno-issledovatel'skiĭ institut ksperimental'noĭ meditsiny" Severo-Zapadnogo otdeleniia RAMN, Sankt-Peterburg

Beletskaia M.V.

Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia

Gracheva E.V.

St. Petersburg State Pediatric Medical University, St. Petersburg

Kudrevatykh A.V.

Institute of Experimental Medicine, St. Petersburg, Russia

Nikolaev M.A.

Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia

Emel'ianov A.K.

Kopytova A.E.

National Research Center «Kurchatov Institute» Konstantinov Petersburg Nuclear Physics Institute, St. Petersburg, Russia

Timofeeva A.A.

Iakimovskiĭ A.F.

Pchelina S.N.

Sankt-Peterburgskiĭ institut iadernoĭ fiziki im. B.P. Konstantinova RAN;
Sankt-Peterburgskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. akad. I.P. Pavlova Roszdrava

The clinical features of Parkinson’s disease in patients with mutations and polymorphic variants of GBA gene

Authors:

Senkevich K.A., Miliukhina I.V., Beletskaia M.V., Gracheva E.V., Kudrevatykh A.V., Nikolaev M.A., Emel'ianov A.K., Kopytova A.E., Timofeeva A.A., Iakimovskiĭ A.F., Pchelina S.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(10): 81‑86

DOI: 10.17116/jnevro201711710181-86

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THE CLINICAL FEATURES OF PARKINSON’S DISEASE IN PATIENTS WITH MUTATIONS AND POLYMORPHIC VARIANTS OF GBA GENE
THE CLINICAL FEATURES OF PARKINSON’S DISEASE IN PATIENTS WITH MUTATIONS AND POLYMORPHIC VARIANTS OF GBA GENE

To cite this article:

Senkevich KA, Miliukhina IV, Beletskaia MV, et al. . The clinical features of Parkinson’s disease in patients with mutations and polymorphic variants of GBA gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(10):81‑86. (In Russ.)
https://doi.org/10.17116/jnevro201711710181-86

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Background. Mutations in the glucocerebrosidase gene (GBA) increase the risk of Parkinson’s disease (PD) by 6—10 times in all populations and are associated with the early-onset of PD, development of cognitive impairment and presence of psychotic disorders. At the same time, polymorphic variants associated with the twofold increase in the risk of PD were also described in the GBA gene. Objective. To estimate the clinical features of PD in patients with mutations and polymorphic variants of the GBA gene. Material and methods. Evaluation of motor, cognitive, emotional, psychotic and autonomic dysfunctions in patients with mutations (N370S, L444P) and polymorphic variants (E326K, T369M) in the GBA gene was performed using clinical scales. Results. Patients with mutations (mGBA-PD), and with polymorphic variants (pGBA-PD) in the GBA gene were compared with the group of patients with sporadic PD (sPD). Compared to sPD, affective disorders (depression and anxiety) were more expressed in the mGBA-PD group (p=0.001) and the general GBA-PD group (p=0.001) assessed with Sheehan anxiety rating scale, in the pGBA-PD group (p=0.012) and the general GBA-PD group (p=0.05) assessed with the NPI, in the mGBA-PD (p=0.003), pGBA-PD (p=0.022), and general GBA-PD groups (p=0.001) assessed with the Hospital Anxiety and Depression scale (HADS «A»), and in the pGBA-PD group (p=0.005) assessed with the HADS «D». Non-motor symptoms assessed with the PD-NMS were more expressed in the pGBA-PD patients (p=0.007) and in the total group with GBA-PD (p=0,014) compared to sPD. Cognitive impairment measured with MMSE was more marked in mGBA-PD patients (p=0.022). Differences in motor and non-motor clinical symptoms between pGBA-PD and mGBA-PD groups were not found. Conclusion. Thus, clinical features of non-motor symptoms were described both in carriers of GBA mutations and polymorphisms. Identification of the specific clinical phenotype of PD in carriers of GBA polymorphic variants is important due to their relatively high prevalence in PD patients.

Keywords:

Parkinson’s disease
GBA
glucocerebrosidase
non-motor symptoms

Authors:

Senkevich K.A.

Institute of Experimental Medicine, St. Petersburg, Russia;
Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia;
National Research Center «Kurchatov Institute» Konstantinov Petersburg Nuclear Physics Institute, St. Petersburg, Russia

Miliukhina I.V.

FGBU "Nauchno-issledovatel'skiĭ institut ksperimental'noĭ meditsiny" Severo-Zapadnogo otdeleniia RAMN, Sankt-Peterburg

Beletskaia M.V.

Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia

Gracheva E.V.

St. Petersburg State Pediatric Medical University, St. Petersburg

Kudrevatykh A.V.

Institute of Experimental Medicine, St. Petersburg, Russia

Nikolaev M.A.

Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia

Emel'ianov A.K.

Kopytova A.E.

National Research Center «Kurchatov Institute» Konstantinov Petersburg Nuclear Physics Institute, St. Petersburg, Russia

Timofeeva A.A.

Iakimovskiĭ A.F.

Pchelina S.N.

Sankt-Peterburgskiĭ institut iadernoĭ fiziki im. B.P. Konstantinova RAN;
Sankt-Peterburgskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. akad. I.P. Pavlova Roszdrava

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