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RARE COGNITIVE & MOVEMENT DISORDERS CLINIC

SPECIALIZED OUTPATIENT CLINIC FOR RARE DEMENTIAS AND ATYPICAL PARKINSONIAN SYNDROMES

 

PATIENT CARE

  The Clinic serves patients with rare or atypical cognitive and movement disorders. It is closely linked to the Ward for Neurodegenerative disorders (Ward B).

 

TRAINING AND RESEARCH ACTIVITIES

In addition to clinical care of patients, the special outpatient clinic for rare dementias and atypical parkinsonian syndromes provides training and research.

 

Training activities:

  • Clinical practice of trainees in neurology
  • Postgraduate lecture program of the 1st Department of Neurology

Research activities:

    Research is closely linked to the Neurochemistry and Biomarkers Unit.

  • Study of cerebrospinal (CSF) biomarkers in patients with rare dementing or movement disorders.
  • Development of imaging markers for such disorders
  • Study of the clinical course of these disorders
  • Study of their neuropsychological characteristics
  • Description of the phenotype of patients and families with rare dementias including genetic forms of cerebral small vessel disease (local registry21) and genetic forms of frontotemporal lobar degenerations.

 

Thus, we have studied:

  1. The diagnostic value of classical CSF biomarkers for the differential diagnosis of frontotemporal dementias in every day practice1,5,7 and the contribution of immunological mechanisms in the pathogenesis of these disorders.2,3
  2. The diagnostic value of classical CSF biomarkers, TDP-43 and other emerging biomarkers for frontotemporal lobar degenerations.4,8
  3. The diagnostic value of classical CSF biomarkers and α-synuclein for the differential diagnosis of atypical parkinsonism.16
  4. Patients with mutations in C9ORF72 (one of the most common genes involved in frontotemporal dementia) and families with hereditary form of Parkinson’s disease (p.A53T mutation) and frontotemporal phenotype.6,9
  5. The first Greek family with frontotemporal lobar degeneration and motor neuron disease due to VCP mutation.10
  6. Two novel Greek families with CADASIL and atypical clinical features12,15 (a third novel family has been described before11) and a new patient form an previously described family.20
  7. A family with autosomal dominant cerebral small vessel disease and a COL4A1/A2 phenocopy (without mutation in the above genes), recognizing that COL4-like patients do exist.14   
  8. Contributed in the study of the 1st Greek patient with heterozygous HTRA1 mutation (heterozygous form of CARASIL).13
  9. The diagnostic value of MRI imaging markers in the differential diagnosis of atypical parkinsonian syndromes in every day practice.17,18
  10. The first Greek compound heterozygote of PANK2.19

 

Some indicative publications

  1. Paraskevas GP, Kapaki E, Liappas I, Theotoka I, Mamali I, Zournas C, Lykouras L. The diagnostic value of cerebrospinal fluid tau protein in dementing and nondementing neuropsychiatric disorders. J Geriatric Psychiatry Neurology, 2005;18:163-73.           
  2. Rentzos M, Zoga M, Paraskevas GP, Kapaki E, Rombos A, Nikolaou C, Tsoutsou A, Vassilopoulos D. IL-15 is elevated in cerebrospinal fluid of patients with Alzheimer's disease and frontotemporal dementia. J Geriatric Psychiatry Neurology,2006;19:114-7.
  3. Rentzos M, Paraskevas GP, Kapaki E, Nikolaou C, Zoga M, Rombos A, Tsoutsou A, Vassilopoulos DD.Interleukin-12 is reduced in cerebrospinal fluid of patients with Alzheimer's disease and frontotemporal dementia. J NeurolSci,2006;249:110-4.
  4. Simonsen Ah, Mcguire J, Podust V, Hagnelius No, Nilsson T, Kapaki E, Vassilopoulos D, Waldemar G. A novel panel of cerebrospinal fluid biomarkers for the differential diagnosis of Alzheimer’s disease versus normal aging and Frontotemporal dementia. Dementia and Geriatric Cognitive Disorders, 2007;24:434-440.
  5. Kapaki E, Paraskevas GP, Papageorgiou S, Bonakis A, Kalfakis N, Zalonis I, Vassilopoulos D. Diagnostic value of CSF biomarker profile in frontotemporal lobar degeneration. Alzheimer’s Disease & Associated Disorders, 2008;22:47-53.
  6. Bougea A, Koros C, Stamelou M, Simitsi A, Papagiannakis N, Antonelou R, Papadimitriou D, Breza M, Tasios K, Fragkiadaki S, GeronicolaTrapali X, Bourbouli M, Koutsis G, Papageorgiou SG, Kapaki E, Paraskevas GP, StefanisL. Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene. Parkinsonism and Related Disorders, 2017;35:82-87.
  7. Paraskevas GP, Kasselimis D, Kourtidou E, Constantinides V, Bougea A, Potagas C, Evdokimidis I, Kapaki E. Cerebrospinal Fluid Biomarkers as a Diagnostic Tool of the Underlying Pathology of Primary Progressive Aphasia.J Alzheimers Dis,2017;55:1453-1461.
  8. Bourbouli M, Rentzos M, Bougea A, Zouvelou V, Constantinides VC, Zaganas I, Evdokimidis I, Kapaki E, Paraskevas GP. Cerebrospinal Fluid TAR DNA-Binding Protein 43 Combined with Tau Proteins as a Candidate Biomarker for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Spectrum Disorders.Dement Geriatr Cogn Disord, 2017.
  9. Kartanou C, Karadima G, Koutsis G, Breza M, Papageorgiou SG, Paraskevas GP, Kapaki E, Panas M. Screening for the C9ORF72 repeat expansion in a Greek frontotemporal dementia cohort. Amyotrophic Lateral Sclerosis Fronto-temporal Degeneration,2018;19:152-154.
  10. Papadimas G, Paraskevas GP, Zambelis T, Karagiaouris C, Bougea A,  Bourbouli M, Kapaki E. The multifaceted clinical presentation of VCP-proteinopathy in a Greek family. ActaMyologica, 2017;36:203-206.
  11. Paraskevas GP, Bougea A, Synetou M, Vassilopoulou S, Anagnostou E, Voumvourakis K, Iliopoulos A, Spengos K. CADASIL and autoimmunity: coexistence in a family with the R169C mutation at exon 4 of the NOTCH3 gene. Cerebrovasc Dis, 2014;38(4):302-7.
  12. Paraskevas GP, Constantinides VC, Bougea A, Gerakoulis E, Yapijakis C, Kararizou E, Kapaki E. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presenting with postpartum psychosis and late-onset stroke. Future Neurol,2016;1(3):207-213.         
  13. Bougea A, Velonakis G, Spantideas N, Anagnostou E, Paraskevas G, Kapaki E, Kararizou E. The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico- radiological presentation. Neuroradiol J, 2017; 30(6):583-585.
  14. Bougea A, Kapaki E, Constantinides V, Yapijakis C, Paraskevas GP.            An unusual phenocopy of the HANAC syndrome without genetic involvement of COL4A1/COL4A2. ActaNeurolBelg, 2018;118(1):135-136.
  15. Paraskevas GP, Constantinides VC, Yapijakis C, Kararizou E, Kapaki EN, Bougea A. Recognition of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Two Oligosymptomatic Sisters with Low CADASIL Scale Scores and a Venous Dysplasia: Report of a Novel Greek Family. J Stroke Cerebrovasc Dis, 2018;pii:S1052-3057(18)30178-2.
  16. Constantinides VC, Paraskevas GP, Emmanouilidou E, Petropoulou O, Bougea A, Vekrellis K., Evdokimidis L, Stamboulis E, Kapaki E.CSF biomarkers beta-amyloid, tau proteins and a-synuclein in the differential diagnosis of Parkinson-plus syndromes. Journal of the Neurological Sciences, 2017;382:91-95.
  17. Constantinides VC, Paraskevas GP, Stamboulis E, KapakiE.Simple linear brainstem MRI measurements in the differential diagnosis of progressive supranuclear palsy from the parkinsonian variant of multiple system atrophy. Neurological Sciences;2018;39: 359-364.
  18. Constantinides VC, Paraskevas GP, Velonakis G, Toulas P, Stamboulis E, Kapaki E.MRI Planimetry and Magnetic Resonance Parkinsonism Index in the Differential Diagnosis of Patients with Parkinsonism. American Journal of Neuroradiology, 2018;DOI:https://doi.org/10.3174/ajnr.A5618.
  19. Paraskevas GP, Yapijakis C, Bougea A, Constantinides V, Bourbouli M, Stamboulis E, Kapaki E. Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration. SAGE Open Med Case Rep, 2017 Jul 16;5:2050313X17720101. doi: 10.1177/2050313X17720101. eCollection 2017
  20. Paraskevas GP, Vassilopoulou S, Anagnostou E, Constantinides VC, Andreadou E, Spengos K, Kapaki E. Tension headaches and vertigo in a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patient. Asclepius Med Res Rev 2018;1(1):1-3
  21. Paraskevas GP, Constantinides VC, Kararizou E, Vassilopoulou S, Paraskevas PG, Kapaki E. Hereditary forms of subcortical small vessel disease. The need for registries. Med Res Innov 2019;3:2-3

1ST DEPARTMENT OF NEUROLOGY: