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PARKINSON'S & OTHER MOVEMENT DISORDERS

SPECIALIZED OUTPATIENT CLINICS OF PARKINSON’S DISEASE AND RELATED MOVEMENT DISORDERS- AND OF – INTERVENTIONAL MAGAMENT OF PARKINSON’S DISEASE AND OTHER MOVEMENT DISORDERS

EDUCATIONAL-RESEARCH ACTIVITIES

 

The specialized outpatient Clinics that deal with Parkinson’s Disease and related Movement Diosrders, beyond the clinical services that they offer, also boast multidimensional educational and research activities.

The educational activities involve:

  • The education of Neurology residents of the First Department of Neurology in the clinical examination, assessment, investigation and treatment of Movement Disorders. This education occurs first through rotations of the residents through the Specialty Clinics devoted to Movement Disorders. As part of the educational program of the Department there is a monthly Video Presentation based on cases from the Movement Disorders Clinics, while there are also a number of lectures devoted to Movement Disorders throughout the Academic year. Movement disorders are also presented as Case Reports from the Specialty Clinics twice during the Academic year.   
  • The education in Movement Disorders of younger colleagues and residents performing their training in Neurology in Greece through their participation   in many Greek Scientific Meetings and seminars where members of the Movement Disorders division of the First Department of Neurology run teaching courses.  Along these lines, members of the Specialty Clinics in Movement Disorders participate actively in the educational activities of the Movement Disorders Division of the Hellenic Neurological Association (http://www.enee.gr/). 
  • The organization and participation in International Meeyings/Seminars related to Movement Disorders. As an example, we recently organized an International on synucleinopathies in Vravrona, Attiki, under the auspices of the Movement Disorders Society and other International organizations (“20 Years of Alpha - Synuclein in Parkinson’s Disease and Related Synucleinopathies: From the Bedside to the Bench and Back to the Patient” congressworld.gr/en/event/synuclein2017_en/). Members of the Movement Disorders Specialty Clinics participate in many other international meetings which relate to Movement Disorders and in particular Neurodegenerative Diseases.     

 

The Research activities of members of the Movement Disorders Specialty Clinics include:

  • Genetic characterization of patients with Parkinson’s Disease, in collaboration with the laboratory of Neurodegenerative Diseases at the Biomedical Research Foundation of the Academy of Athens (BRFAA) (http://www.bioacademy.gr/faculty-details/GMI/lewnidas) and with the Laboratory of Enzymology and Cell Function of the Institute of Child Health, as well as with Institutions abroad, such as with the laboratory of Thomas Gasser in  Tubingen, and international consortia such as the GEOPD.  These studies aim at deciphering the Genetic underpinnings of Parkinson’s Disease in Greece.       
  • Participation in the Study PPMI (Parkinson’s Disease Progression Markers Initiative), sponsored by the Michael J Fox Foundation USA.  This is an international network of study of biological markers in Parkinson’s Disease (http://www.ppmi-info.org/about-ppmi/).  The Center at the University of Athens participates in the study mainly with patients with rare genetic forms, as well as with subjects with prodromal forms of the disease.     
  • Study of Biomarkers in Parkinson’s Disease.  We are studying peripheral biomarkers that correspond to mechanisms of pathogenesis in the Central Nervous System.  Currently, we are focusing on the study of markers related to alpha-synuclein, but also indices of lysosomal function, as well as neuronal microRNAs that are possibly involved in the disease.    These studies are performed in collaboration with the laboratory of Neurodegenerative Diseases at BRFAA (http://www.bioacademy.gr/faculty-details/GMI/lewnidas).   
  • Prospective Study of prodromal forms of Parkinson’s Disease (such as subjects with REM Sleep Behavior Disorder (RBD), or asymptomatic carriers of mutations linked to Parkinson’s Disease).  This study is performed in collaboration with the Neurophysiological Unit of Children and Adults of the Second Department of Neurology, as well as with the laboratory of the study of Thin Nerve Fibers and the Autonomic Nervous System of the First Department of Neurology.
  • Clinical and laboratory study (Sonography, triplex, bone density measurements) for the analysis of the symptomatology of dysfunctional and painful shoulder as an early sign of Parkinson’s Disease  (in collaboration with the Second Department of Orthopedics of the UoA Medical School)
  • Neuropsychological study of combinatorial memory for faces-names-demographic features (profession) of patients with Parkinson’s Disease without dementia, through the use of the Face Name Associative Memory Exam (GR-FNAME12), as an early indicator of cognitive decline.
  • Neuropsychological study of the perception of distances and the avoidance of hurdles in patients with Parkinson’s Disease, as part of the investigation of the clinical characteristics of the disease that are related to  freezing of gait.     
  • Study of Psychotic features in early Parkinson’s Disease.  The study is performed in collaboration with the First Department of Psychiatry.
  • Study for the documentation of non-motor symptoms of Parkinson’s Disease, such as depression, sleep disorders, and, especially, impulse control disorders in relation to drug administration and various disease parameters, but also pre-morbid conditions (collaboration with the First Department of Psychiatry).
  • Examination of a possible common pathophysiological basis for cognitive decline in Schizophrenic disorders and Parkinson’s Disease.   The study compares the behavioral and neuroimaging data of patients with Parkinson’s Disease with corresponding data from patients with Schizophrenia, using as reference an elementary sensorimotor decision Center (collaboration with the First Department of Psychiatry).
  • Genetic study of generalized and focal Dystonias, as well as other rare Movement Disorders.  These studies are performed in collaboration with Centers abroad, such as the Laboratory of Enza Maria Valente (Santa Lucia Foundation).
  • Creation of pluripotent stem cells from patients with genetic forms of Parkinson’s Disease, in collaboration with the laboratory of Rebekka Matsa, at the Pasteur Institute.  

 

Indicative Publications

1. Bozi M, Matarin M, Theocharis I, Potagas C, Stefanis L (2009) A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy. Clin Neurol Neurosurg. 111(8):688-90

2. Stefanis N, Bozi M, Christodoulou C, Douzenis A, Gasparinatos G, Stamboulis E, Stefanis C, Stefanis L (2010) Isolated delusional syndrome in Parkinson's Disease. Parkinsonism Relat Disord. 16(8):550-2.

3. Xiromerisiou G, Kyratzi E, Dardiotis E, Bozi M, Tsimourtou V, Stamboulis E, Ralli S, Vassilatis D, Gourbali V, Kountra PM, Fountas K, Papadimitriou A, Stefanis L, Hadjigeorgiou GM (2011) Lack of Association of the UCHL-1 gene with Parkinson's disease in a Greek cohort: A haplotype-tagging approach. Mov Disord. 26(10):1955-7

4.  Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H (2011) β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. Mol Genet Metab. 104(1-2):149-52

5. Vekrellis K, Xilouri M, Emmanouilidou E, Rideout HJ, Stefanis L (2011) Pathological roles of α-synuclein in neurological disorders. Lancet Neurol. 10(11):1015-25

6. Ross OA, …, Stefanis L, Tadic V, .. White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium (2011) Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 10(10):898-908

7. Elbaz A, .., Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium (2011)  Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol 69(5):778-92

8. Argyriou A, Dermentzaki G, Papasilekas T, Moraitou M, Stamboulis E, Vekrellis K, Michelakakis H, Stefanis L (2012) Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging. Neurosci Lett. 528(2):205-9

9. Sharma M, …,  Stefanis L, Stockton JD, ..Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium (2012) A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet. 49(11):721-6

10. Sharma M, .., Stefanis L, Stockton JD, .. Zhao Y, Gasser T, Maraganore D, Krüger R; GEO-PD Consortium (2012) Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 79(7):659-67

11. Michelakakis H, Xiromerisiou G, Dardiotis E, Bozi M, Vassilatis D, Kountra PM, Patramani G, Moraitou M, Papadimitriou D, Stamboulis E, Stefanis L, Zintzaras E, Hadjigeorgiou GM (2012)  Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.  Mov Disord. 27(3):400-5

12. Liozidou A, Potagas C, Papageorgiou SG, Zalonis I. (2012) The role of working memory and information processing speed on Wisconsin card sorting test performance in Parkinson disease without dementia. J Geriatr Psychiatry Neurol 25(4): 215-21

13. Stamelou M, Christodoulou C, Stefanis L (2013) Dopamine agonists and delusional jealousy in Parkinson's disease: a cross-sectional prevalence study. Mov Disord. 28(5):689 [letter to the editor]

14. Heckman MG, …., Stefanis L, Tadic V, Theuns J, .. Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium (2013) Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord. 28(12):1740-4

15. Bozi M, Papadimitriou D, Antonellou R, Moraitou M, Maniati M, Vassilatis DK, Papageorgiou SG, Leonardos A, Tagaris G, Malamis G, Theofilopoulos D, Kamakari S, Stamboulis E, Hadjigeorgiou GM, Athanassiadou A, Michelakakis H, Papadimitriou A, Gasser T, Stefanis L (2014) Genetic assessment of familial and early-onset Parkinson's disease in a Greek population. Eur J Neurol 21(7): 963-968

16. Tsivgoulis G, Bonakis A, Papathanasiou MA, Chondrogianni M, Papageorgiou SG, Voumvourakis K, Stefanis L (2014) Magnetic resonance imaging reveals Creutzfeldt-Jakob disease in a patient with apparent dementia with Lewy bodies  J Neurol Sci. 340(1-2):130-2

17.  Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, Bostantjopoulou S, Keller MF, Wood NW, Hardy J, Houlden H, Stefanis L, Plaitakis A, Hernandez D, Hadjigeorgiou GM, Nalls MA, Singleton AB (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging. 35(2):442.e9-442

18. Heckman MG, Elbaz A, … Stefanis L, Tadic V, .. Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium (2014) Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging 35(1):266.e5-14

19. Stamelou M, Diehl-Schmid J, Hapfelmeier A, Kontaxopoulou D, Stefanis L, Oertel WH, Bhatia KP, Papageorgiou SG, Höglinger GU. (2015) The frontal assessment battery is not useful to discriminate progressive supranuclear palsy from frontotemporal dementias. Parkinsonism Relat Disord. 21(10):1264-8

20. Wang L, Aasly JO, …. Stefanis L, ..Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium (2015)  Large-scale assessment of polyglutamine repeat expansions in Parkinson disease. Neurology. 85(15):1283-92

21. Papagiannakis N, Xilouri M, Koros C, Stamelou M, Antonelou R, Maniati M, Papadimitriou D, Moraitou M, Michelakakis H, Stefanis L (2015) Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients. Mov Disord. 30(13):1830-4

22. Ghika A, Kyrozis A, Potagas C, Louis ED. (2015) Motor and non-motor features: Differences between patients with isolated essential tremor and patients with both essential tremor and Parkinson’s disease. Tremor Other Hyperkinet Mov, 5: 335

23. Moraitou M, Dermentzaki G, Dimitriou E, Monopolis I, Dekker N, Aerts H, Stefanis L, Michelakakis H (2016) α-Synuclein dimerization in erythrocytes of Gaucher disease patients: correlation with lipid abnormalities and oxidative stress. Neurosci Lett. 613:1-5

24. Xilouri M, Brekk OR, Stefanis L (2016) Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related Synucleopathies. Mov Disord. 31(2):178-92

25. Papadimitriou D, Antonelou R, Miligkos M, Maniati M, Papagiannakis N, Bostantjopoulou S, Leonardos A, Koros C, Simitsi A, Papageorgiou SG, Kapaki E, Alcalay RN, Papadimitriou A, Athanassiadou A, Stamelou M, Stefanis L (2016) Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study. Mov Disord. 31(8):1226-30

26. Pons R, Kekou K, Antonellou R, Svingou M, Kanavakis E, Stefanis L (2016) Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease. Mov Disord. 31(11):1753-1754

27. Wang L, Heckman MG, ..Stefanis L, Stockton JD, .. Xiromerisiou G, Maraganore DM, Gasser T, Krüger R, Farrer MJ, Ross OA, Sharma M; GEOPD Consortium (2017) Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study. Neurobiol Aging. 49:217.e1-217

28. Melachroinou K, Leandrou E, Valkimadi PE, Memou A, Hadjigeorgiou G, Stefanis L, Rideout HJ (2016)  Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations. PLoS One 11(11):e0166053

29. Bougea A, Koros C, Stamelou M, Simitsi A, Papagiannakis N, Antonelou R, Papadimitriou D, Breza M, Tasios K, Fragkiadaki S, Geronicola Trapali X, Bourbouli M, Koutsis G, Papageorgiou SG, Kapaki E, Paraskevas GP, Stefanis L. (2017) Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene. Parkinsonism Relat Disord. 35:82-87

30. Kouroupi G, Taoufik E, Vlachos IS, Tsioras K, Antoniou N, Papastefanaki F, Chroni-Tzartou D, Wrasidlo W, Bohl D, Stellas D, Politis PK, Vekrellis K, Papadimitriou D, Stefanis L, Bregestovski P, Hatzigeorgiou AG, Masliah E, Matsas R (2017) Defective synaptic connectivity and axonal neuropathology in a human iPSC-based model of familial Parkinson's disease. Proc Natl Acad Sci U S A. 114(18):E3679-E3688

31. Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N (2017) ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. Parkinsonism Relat Disord. 41:37-43

32. Koros C, Simitsi A, Stefanis L (2017) Genetics of Parkinson's Disease: Genotype-Phenotype Correlations. Int Rev Neurobiol. 132:197-231

33. Darling A, Tello C, Martí MJ, .. Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B (2017) Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study. Mov Disord. 32(11):1620-1630

34. Papagiannakis N, Koros C, Stamelou M, Simitsi AM, Maniati M, Antonelou R, Papadimitriou D, Dermentzaki G, Moraitou M, Michelakakis H, Stefanis L (2018) Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson's Disease. Neurosci Lett. 672:145-149

35. Breza M, Koutsis G, Karadima G, Potagas C, Kartanou C, Papageorgiou SG, Paraskevas GP, Kapaki E, Stefanis L, Panas M (2018) The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia.  Neurosci Lett. 672:136-139

36. Koros C, Stamelou M, Simitsi A, Beratis I, Papadimitriou D, Papagiannakis N, Fragkiadaki S, Kontaxopoulou D, Papageorgiou SG, Stefanis L (2018) Selective cognitive impairment and hyposmia in p.A53T SNCA PD vs typical PD. Neurology 90(10):e864-e869

37. Simitsi A, Koros C, Moraitou M, Papagiannakis N, Antonellou R, Bozi M, Angelopoulou E, Stamelou M, Michelakakis H, Stefanis L (2018) Phenotypic Characteristics in GBA-Associated Parkinson's Disease: A Study in a Greek Population. J Parkinsons Dis. 8(1):101-105

38. Vavougios GD, Doskas T, Kormas C, Krogfelt KA, Zarogiannis SG, Stefanis L (2018) Identification of a prospective early motor progression cluster of Parkinson's disease: Data from the PPMI study. J Neurol Sci. 387:103-108

39. Stamelou M, Petrucci S, Ginevrino M, Pons R, Papagiannakis N, Stefanis L, Valente EM (2018) Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation. J Neurol Sci. 388:158

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