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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.

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

DOI: 10.17116/jnevro201711710181-86

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Table of contents

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 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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Abstract:

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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References:

  1. Trinh J, Farrer M. Advances in the genetics of Parkinson disease. Nature Reviews Neurology. 2013;9(8):445-454. https://doi.org/10.1038/nrneurol.2013.132
  2. Emelyanov A, Boukina T, Yakimovskii A, Usenko T, Drosdova A, Zakharchuk A, Andoskin P, Dubina M, Schwarzman A, Pchelina S. Glucocerebrosidase gene mutations are associated with Parkinson’s disease in Russia. Movement Disorders. 2011;27(1):158-159. https://doi.org/10.1002/mds.23950
  3. Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson’s Disease Genetics Study Group. Large-scale screening of the Gaucher’s disease-related glucocerebrosidase gene in Europeans with Parkinson’s disease. Human Molecular Genetics. 2010;20(1):202-210. https://doi.org/10.1093/hmg/ddq454
  4. Sidransky E, Lopez G. The link between the GBA gene and parkinsonism. The Lancet Neurology. 2012;11(11):986-998. https://doi.org/10.1016/s1474-4422(12)70190-4
  5. Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA. Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem. 1994;269(3):2283-2291.
  6. Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z. GBAp.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis. Neurology Genetics. 2016;2(5):104. https://doi.org/10.1212/nxg.0000000000000104
  7. Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T. The glucocerobrosidase E326K variant predisposes to Parkinson’s disease, but does not cause Gaucher’s disease. Movement Disorders. 2012;28(2):232-236 https://doi.org/10.1002/mds.25248
  8. Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K. Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study. Neurology. 2012;78(18):1434-1440. https://doi.org/10.1212/wnl.0b013e318253d54b
  9. Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, Blesa R, Lleó A, Hardy J, Kulisevsky J, Clarimón J. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson’s disease course. Movement Disorders. 2011;27(3):393-399. https://doi.org/10.1002/mds.24045
  10. Gan’kina OA, Vasenina EE, Levin OS, Fedotova EYu, Illarioshkin SN. Characteristics of Parkinson’s disease course in the heterozygous carriage of mutations in the glucocerebrosidase A gene. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2016;116(6-2):71-76. (In Russ.)
  11. Barrett MJ, Shanker VL, Severt WL, Raymond D, Gross SJ, Schreiber-Agus N, Kornreich R, Ozelius LJ, Bressman SB, Saunders-Pullman R. Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Reports. 2014:31-38. https://doi.org/10.1007/8904_2014_315
  12. Brockmann K, Srulijes K, Hauser AK, Schulte C, Csoti I, Gasser T, Berg D. GBA-associated PD presents with nonmotor characteristics. Neurology. 2011;77(3):276-280. https://doi.org/10.1212/wnl.0b013e318225ab77
  13. Mata IF, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Ritz B, Rausch R, Factor SA, Wood-Siverio C, Quinn JF, Chung KA, Peterson-Hiller AL, Goldman JG, Stebbins GT, Bernard B, Espay AJ, Revilla FJ, Devoto J, Rosenthal LS, Dawson TM, Albert MS, Tsuang D, Huston H, Yearout D, Hu SC, Cholerton BA, Montine TJ, Edwards KL, Zabetian CP. GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson’s disease. Movement Disorders. 2015;31(1):95-102. https://doi.org/10.1002/mds.26359
  14. Davis MY, Johnson CO, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Quinn JF, Chung KA, Peterson-Hiller AL, Rosenthal LS, Dawson TM, Albert MS, Goldman JG, Stebbins GT, Bernard B, Wszolek ZK, Ross OA, Dickson DW, Eidelberg D, Mattis PJ, Niethammer M, Yearout D, Hu SC, Cholerton BA, Smith M, Mata IF, Montine TJ, Edwards KL, Zabetian CP. Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease. JAMA Neurology. 2016;73(10):1217. https://doi.org/10.1001/jamaneurol.2016.2245
  15. Pchelina SN, Ivanova ON, Emel’ianov AK, Iakimovskiĭ AF.ClinicalfeaturesofLRRK2-associatedParkinson’s disease. Zh Nevrol Psikhiatr Im. S.S. Korsakova. 2011;111(12):56-62. (In Russ.)
  16. Hughes A, Daniel S, Kilford L, Lees A. Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. Journal of Neurology, Neurosurgery& Psychiatry. 1992;55(3):181-184. https://doi.org/10.1136/jnnp.55.3.181
  17. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the Glucocerebrosidase Gene and Parkinson’s Disease in Ashkenazi Jews. New England Journal of Medicine. 2004;351(19):1972-1977. https://doi.org/10.1056/nejmoa033277
  18. Pchelina S, Emelyanov A, Baydakova G, Andoskin P, Senkevich K, Nikolaev M, MiliukhinaI, Yakimovskii A, Timofeeva A, Fedotova E, Abramycheva N, Usenko T, Kulabukhova D, Lavrinova A, Kopytova A, Garaeva L, Nuzhnyi E, Illarioshkin S, Zakharova E. Oligomeric α-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease. Neuroscience Letters. 2017;636:70-76. https://doi.org/10.1016/j.neulet.2016.10.039
  19. Walker JM, Lwin A, Tayebi N, LaMarca ME, Orvisky E, Sidransky E. Glucocerebrosidase mutation T369M appears to be another polymorphism. Clinical Genetics. 2003;63(3):237-238. https://doi.org/10.1034/j.1399-0004.2003.00055.x
  20. Pchelina S, Yakimovskii A, Ivanova O, Emelianov A, Zakharchuk A, Schwarzman A. G2019S LRRK2 mutation in familial and sporadic Parkinson’s disease in Russia. Movement Disorders. 2006;21(12):2234-2236. https://doi.org/10.1002/mds.21134
  21. Kumar KR, Ramirez A, Göbel A, Kresojević N, Svetel M, Lohmann K, M Sue C, Rolfs A, Mazzulli JR, Alcalay RN, Krainc D, Klein C, Kostic V, Grünewald A. Glucocerebrosidase mutations in a Serbian Parkinson’s disease population. European Journal of Neurology. 2012;20(2):402-405. https://doi.org/10.1111/j.1468-1331.2012.03817.x
  22. Ran C, Brodin L, Forsgren L, Westerlund M, Ramezani M, Gellhaar S, Xiang F, Fardell C, Nissbrandt H, Söderkvist P, Puschmann A, Ygland E, Olson L, Willows T, Johansson A, Sydow O, Wirdefeldt K, Galter D, Svenningsson P, Belin AC. Strong association between glucocerebrosidase mutations and Parkinson’s disease in Sweden. Neurobiology of Aging. 2016;45:212:5-212. https://doi.org/10.1016/j.neurobiolaging.2016.04.022
  23. Brockmann K, Srulijes K, Pflederer S, Hauser AK, Schulte C, Maetzler W, Gasser T, Berg D. GBA-associated Parkinson’s disease: Reduced survival and more rapid progression in a prospective longitudinal study. Movement Disorders. 2014;30(3):407-411. https://doi.org/10.1002/mds.26071
  24. Beavan M, McNeill A, Proukakis C, Hughes D, Mehta A, Schapira A. Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation—Positive Cohort. JAMA Neurology. 2015;72(2):201. https://doi.org/10.1001/jamaneurol.2014.2950
  25. Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T, Duran R, Mencacci NE, Sawcer SJ, Barker RA. Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort. Brain. 2013;136(2):392-399. https://doi.org/10.1093/brain/aws318
  26. Malec-Litwinowicz M, Rudzińska M, Szubiga M, Michalski M, Tomaszewski T, Szczudlik A. Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients. Neurologia i Neurochirurgia Polska. 2014;48(4):258-261. https://doi.org/10.1016/j.pjnns.2014.07.005
  27. Swan M, Doan N, Ortega RA, Barrett M, Nichols W, OzeliusL, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R. Neuropsychiatric characteristics of GBA-associated Parkinson disease. Journal of the Neurological Sciences. 2016;370:63-69. https://doi.org/10.1016/j.jns.2016.08.059
  28. Wang C, Cai Y, Gu Z, Ma J, Zheng Z, Tang BS, Xu Y, Zhou Y, Feng T, Wang T, Chen SD, Chan P; Chinese Parkinson Study Group.Clinical profiles of Parkinson’s disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals. Neurobiology of Aging. 2014;35(3):725.1-725. https://doi.org/10.1016/j.neurobiolaging.2013.08.012
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