Skip to main navigation Skip to main content Skip to page footer
Menu

NEUROGENETICS

NEUROGENETICS UNIT: EDUCATIONAL AND RESEARCH ACTIVITIES

 

NEUROGENETICS UNIT: EDUCATIONAL ACTIVITIES

  Every Genetics Center (along with central health authorities and other regulatory bodies) shares an important role in providing society with relevant information regarding hereditary disorders.  Within this framework, the Neurogenetics Unit caters for the education of undergraduate and postgraduate students in medical genetics and neurogenetics. Equally importantly, it trains health care professionals from primary and secondary care, with a view to forming a bridge linking the Genetics Center with the National Health Service and society at large.

  The Neurogenetics Unit provides the following teaching at an undergraduate level:

  • Lectures on the “Genetics of the nervous system” for the course “Introduction to neuroscience” for medical students
  • Elective course "Neurogenetics". Coordinators: G. Karadima & G. Koutsis
  • Supervision of laboratory projects (diploma) for final year undergraduate biology students

 

The Neurogenetics Unit provides the following teaching at a postgraduate level:

  •  Supervision of doctoral theses (PhD) and diplomas (MSc) in neurogenetics
  •  Lectures on several neurogenetics topics for resident neurologists
  • Lectures on neurogenetics for five postgraduate degrees (MSc) of the Faculty of Biology and the School of Medicine, National and Kapodistrian University of Athens and the School of Medicine, University of Thessaly, entitled “Biological applications in medicine”, “Molecular medicine”, “Clinical neurophysiology”, “Molecular biomedicine” and “Medical genetics”.

 

NEUROGENETICS UNIT: RESEARCH ACTIVITIES

  Out of the sum total of genetic diseases affecting humans, a significant proportion involves one way or another, the nervous system. This appears to be related to the fact that a very large proportion of human genes are involved in the development of the nervous system. Identification of the molecular genetic mechanisms underlying many disorders of the nervous system has significantly altered the classic approach to neurological nosology by creating numerous novel disease categories and also deleting previously recognized categories. Recent molecular research has revealed the ‘secret’ causes of several ‘idiopathic’ neurological disorders previously ‘hidden’ within the genome. It is of particular importance for a Genetics Center to participate in research covering most aspects of medical genetics. Participating in what is known as applied research should take priority, in an effort to understand the cause of genetic disease and assist in its prevention. The fields of carrier tracing, presymptomatic and prenatal diagnosis should form a focus of such research.

  In the Neurogenetics Unit, the clinical service is intertwined with research, not only as a result of our university framework, but also as a result of dealing with diseases that are at the forefront of medical research.

  Our Unit performs applied research on several important hereditary disorders of the nervous system. Our research activities focus on the following:

  • Population genetic studies (clinical and molecular characterization of Greek patients), since our Unit acts as the only reference center for most genetic conditions of the nervous system in Greece.
  • Genotype-phenotype correlation studies (studies correlating particular mutations with unique phenotypes).
  • Studies identifying and investigating novel mutations in genes causing neurodegenerative disorders.
  • Studies on biomarkers and other endophenotypes.
  • Genetic association studies (candidate genes and GWAS).
  • Studies identifying new syndromes, new mutations and novel genes (using Sanger sequencing or/and next-generation sequencing).

 

The research activities of the Neurogenetics Unit have led to over 100 papers published in international peer-reviewed journals.

Representative publications (last 5 years, 2020-2024):

 

  • Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders. Genet Med. 2024 Jun;26(6):101117. doi: 10.1016/j.gim.2024.101117.
  • Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire MJ, Danzi MC, Koniari C, Athanassopoulos K, Panas M, Stefanis L, Zuchner S, Brais B, Houlden H, Karadima G, Koutsis G. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. Clin Genet. 2024 Apr;105(4):446-452. doi: 10.1111/cge.14482
  • Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012.
  • Bampatsias D, Theodorakakou F, Briasoulis A, Georgiopoulos G, Dimoula A, Papantoniou V, Papantoniou I, Skiadaresi C, Valsamaki P, Repasos E, Petropoulos I, Delialis D, Papathoma A, Koutsis G, Tselegkidi ME, Stamatelopoulos K,Kastritis E. Transthyretin amyloidosis cardiomyopathy in Greece: Clinical insights from the National Referral Center. Hellenic J Cardiol. 2024 Sep- Oct;79:25-34. doi: 10.1016/j.hjc.2023.09.019.
  • Kontogeorgiou Z, Kartanou C, Rentzos M, Kokotis P, Anagnostou E, Zambelis T, Chroni E, Dinopoulos A, Panas M, Koutsis G, Karadima G. Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next- generation sequencing: Clinical and molecular spectrum delineation. J Peripher Nerv Syst. 2023 Dec;28(4):642-650. doi: 10.1111/jns.12598.
  • Sampatakakis SN, Mourtzi N, Charisis S, Kalligerou F, Mamalaki E, Ntanasi E, Hatzimanolis A, Koutsis G, Ramirez A, Lambert JC, Yannakoulia M, Kosmidis MH, Dardiotis E, Hadjigeorgiou G, Sakka P, Rouskas K, Patas K, Scarmeas N. Cerebral Amyloidosis in Individuals with Subjective Cognitive Decline: From Genetic Predisposition to Actual Cerebrospinal Fluid Measurements. Biomedicines. 2024 May 10;12(5):1053. doi: 10.3390/biomedicines12051053.
  • Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group. Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886
  • Panagiotopoulos I, Papatheodorou E, Anastasakis A, Kastritis E, Gourzi P, Kontogeorgiou Z, Koutsis G, Karadima G, Koutelou M. Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece. Hell J Nucl Med. 2023 May-Aug;26(2):145-149. doi: 10.1967/s002449912585.
  • Efthymiou S, Novis LE, Koutsis G, Koniari C, Maroofian R, Turchetti V, Velonakis G, Vasconcellos LF, Raskin S, Srinivasan VM, Pagnamenta AT, Arun YB, Kinhal UV, Gowda VK, Teive HAG, Houlden H. Pure cerebellar ataxia due to bi- allelic PRDX3 variants including recurring p.Asp202Asn. Ann Clin Transl Neurol. 2023 Oct;10(10):1910-1916. doi: 10.1002/acn3.51874.
  • Papadimas GK, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, Sofocleous C, Tsanou E, Sarmas I, Kaninia S, Chroni E, Tsivgoulis G, Kimiskidis V, Arnaoutoglou M, Stefanis L, Panas M, Koutsis G, Karadima G, Traeger-Synodinos J. A Greek National Cross-Sectional Study on Myotonic Dystrophies. Int J Mol Sci. 2022 Dec 7;23(24):15507. doi: 10.3390/ijms232415507
  • Kartanou C, Seferiadi M, Pomoni S, Potagas C, Sofocleous C, Traeger- Synodinos J, Stefanis L, Panas M, Koutsis G, Karadima G. Screening for the FMR1 premutation in Greek patients with late-onset movement disorders. Parkinsonism Relat Disord. 2023 Feb;107:105253. doi: 10.1016/j.parkreldis.2022.105253.
  • Kartanou C, Kontogeorgiou Z, Rentzos M, Potagas C, Aristeidou S, Kapaki E, Paraskevas GP, Constantinides VC, Stefanis L, Papageorgiou SG, Houlden H, Panas M, Koutsis G, Karadima G. Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. J Neurol Sci. 2022 Nov 15;442:120450. doi: 10.1016/j.jns.2022.120450.
  • Tzagournissakis M, Foukarakis E, Samonakis D, Tsilimbaris M, Michaelidou K, Mathioudakis L, Marinis A, Giannakoudakis E, Spanaki C, Skoula I, Erimaki S, Amoiridis G, Koutsis G, Koukouraki S, Stylianou K, Plaitakis A, Mitsias PD, Zaganas I. High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes. Neurol Genet. 2022 Sep 9;8(5):e200013. doi: 10.1212/NXG.0000000000200013.
  • Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013.
  • Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C. Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis. Eur J Heart Fail. 2022 Sep;24(9):1677-1696. doi: 10.1002/ejhf.2589.
  • Koutsis G, Kastritis E, Kontogeorgiou Z, Kartanou C, Kokotis P, Rentzos M, Breza M, Kleopa KA, Christodoulou K, Oikonomou E, Anastasakis A, Angelidakis P, Sarmas I, Kargiotis O, Tzagournissakis M, Zaganas I, Foukarakis E, Sachpekidis V, Papathoma A, Panas M, Stefanis L, Dimopoulos MA, Karadima G. Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country. Neuromuscul Disord. 2021 Dec;31(12):1251-1258. doi: 10.1016/j.nmd.2021.09.008
  • Kontogeorgiou Z, Voudommatis C, Kartanou C, Pandis D, Breza M, Zambelis T, Stefanis L, Panas M, Koutsis G, Karadima G. HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2021 Dec;26(4):444-448. doi: 10.1111/jns.12473.
  • Bourbouli M, Paraskevas GP, Rentzos M, Mathioudakis L, Zouvelou V, Bougea A, Tychalas A, Kimiskidis VK, Constantinides V, Zafeiris S, Tzagournissakis M, Papadimas G, Karadima G, Koutsis G, Kroupis C, Kartanou C, Kapaki E, Zaganas I. Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients. Brain Sci. 2021 Sep 19;11(9):1239. doi: 10.3390/brainsci11091239.
  • Karavasilis E, Christidi F, Pantou E, Angelopoulou G, Kasselimis D, Breza M, Kontogeorgiou Z, Filippiadis D, Potagas C, Karadima G, Koutsis G, Velonakis G. Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study. Neuroradiology. 2022 Mar;64(3):543-552. doi: 10.1007/s00234-021-02730-x.
  • Chelban V, Breza M, Szaruga M, Vandrovcova J, Murphy D, Lee CJ, Alikhwan S, Bourinaris T, Vavougios G, Ilyas M, Halim SA, Al-Harrasi A, Kartanou C, Ronald C, Blumcke I, Alexoudi A, Gatzonis S, Stefanis L, Karadima G, Wood NW, Chávez- Gutiérrez L, Hardy J, Houlden H, Koutsis G. Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease. Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186.
  • Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2
  • Kontogeorgiou Z, Kartanou C, Tsirligkani C, Anagnostou E, Rentzos M, Stefanis L, Karadima G, Koutsis G. Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia. Clin Genet. 2021 Jul;100(1):90-94. doi: 10.1111/cge.13960.
  • Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063.
  • Breza M, Hirst J, Chelban V, Banneau G, Tissier L, Kol B, Bourinaris T, Said SA, Péréon Y, Heinzmann A, Debs R, Juntas-Morales R, Martinez VG, Camdessanche JP, Scherer-Gagou C, Zola JM, Athanasiou-Fragkouli A, Efthymiou S, Vavougios G, Velonakis G, Stamelou M, Tzartos J, Potagas C, Zambelis T, Mariotti C, Blackstone C, Vandrovcova J, Mavridis T, Kartanou C, Stefanis L, Wood N, Karadima G, LeGuern E, Koutsis G, Houlden H, Stevanin G. Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease. Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487.
  • Bistola V, Parissis J, Foukarakis E, Valsamaki PN, Anastasakis A, Koutsis G, Efthimiadis G, Kastritis E. Practical recommendations for the diagnosis and management of transthyretin cardiac amyloidosis. Heart Fail Rev. 2021 Jul;26(4):861-879. doi: 10.1007/s10741-020-10062-w.
  • Siokas V, Tsouris Z, Aloizou AM, Bakirtzis C, Liampas I, Koutsis G, Anagnostouli M, Bogdanos DP, Grigoriadis N, Hadjigeorgiou GM, Dardiotis E. Multiple Sclerosis: Shall We Target CD33? Genes (Basel). 2020 Nov 12;11(11):1334. doi: 10.3390/genes11111334.
  • De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A; SYNAPS Study Group; Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. J Med Genet. 2021 Dec;58(12):815-831. doi: 10.1136/jmedgenet-2020-107015.
  • Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178.
  • Laskaratos A, Breza M, Karadima G, Koutsis G. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach. J Med Genet. 2021 Jun;58(6):385-391. doi: 10.1136/jmedgenet-2020-106963.
  • Breza M, Bourinaris T, Efthymiou S, Maroofian R, Athanasiou-Fragkouli A, Tzartos J, Velonakis G, Karavasilis E, Angelopoulou G, Kasselimis D, Potagas C, Stefanis L, Karadima G, Koutsis G, Houlden H. A homozygous GDAP2 loss-of- function variant in a patient with adult-onset cerebellar ataxia. Brain. 2020 Jun 1;143(6):e49. doi: 10.1093/brain/awaa120.
  • Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007.
  • Breza M, Emmanouilidou E, Leandrou E, Kartanou C, Bougea A, Panas M, Stefanis L, Karadima G, Vekrellis K, Koutsis G. Elevated Serum α-Synuclein Levels in Huntington's Disease Patients. Neuroscience. 2020 Apr 1;431:34-39. doi: 10.1016/j.neuroscience.2020.01.037.
  • Kasselimis D, Karadima G, Angelopoulou G, Breza M, Tsolakopoulos D, Potagas C, Panas M, Koutsis G. Evidence for Cognitive Deficits in X-Linked Charcot- Marie-Tooth Disease. J Int Neuropsychol Soc. 2020 Mar;26(3):294-302. doi: 10.1017/S1355617719001188.  
  • Papagiannakis N, Liu H, Koros C, Simitsi AM, Stamelou M, Maniati M, Buena- Atienza E, Kartanou C, Karadima G, Makrythanasis P, Vatsellas G, Valente EM, Gasser T, Stefanis L. Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease. Mov Disord. 2024 Apr;39(4):715-722. doi: 10.1002/mds.29739.  Angelopoulou E, Karadima G, Pyrgelis ES, Zambelis T, Zouvelou V. Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy. J Clin Neuromuscul Dis. 2023 Mar 1;24(3):165-166. doi: 10.1097/CND.0000000000000417..

1ST DEPARTMENT OF NEUROLOGY: