Cleanthe Spanaki, M.D., Ph.D.†††††††††††††††††
University of Crete, School of Medicine, Dept. of Neurology
+30 2810 394651
Dr. Spanakiís research interest is focused on discovering causative or susceptibility genes for Parkinsonís disease (PD) and on defining the clinical features of typical and atypical parkinsonian disorders. Her study on PD on the island of Crete provided strong evidence that multiple genetic factors are involved in the pathogenesis of late onset, mostly sporadic PD. She is interested in using both genetic linkage analysis and candidate gene approaches to identify these genetic factors. Using genetic linkage analyses, she found that PD families from Crete are linked to a region on the 10th chromosome and she is interested in pursuing this lead with the goal cloning the gene responsible. Using the candidate gene approach, she identified a rare LRRK2 mutation associated with PD evolving to PSP and that a gain-of-function variant of the GLUD2 gene associated with earlier onset of PD in males. She is currently interested in pursuing work on GLUD2 in order to unravel its role in nerve tissue biology and the mechanisms by which over activity of this mitochondrial protein speeds the onset of PD.
1.†† Spanaki C, Plaitakis A. The role of glutamate dehydrogenase in mammalian ammonia metabolism. Neurotox Res 2012 21(1): 117-27.
2. Borobokas N., Papachatzaki MM, Kanavouras K., Mastorodemos V.,† Zaganas I., Spanaki C. and Plaitakis A. Estrogen modification of human glutamate dehydrogenases is linked to enzyme activation state. J Biol Chem 2010 285(41):31380-7.
3. C. Spanaki, I. Zaganas, K. Kleopas and A Plaitakis. Human GLUD2 Glutamate Dehydrogenase is expressed in Neural and Testicular Supportive cells. J Biol Chem 2010 285(22):16748-56. †
4. Plaitakis A, Latsoudis H, Kanavouras K, Ritz B, Bronstein JM, Skoula I, Mastorodemos V, Papapetropoulos S, Borompokas N, Zaganas I, Xiromerisiou G, Hadjigeorgiou GM and Spanaki C. Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset. Eur J Hum Genet. 2010 18(3):336-41. ††
5. Ross OA, Spanaki C, Griffith A, Lin CH, Kachergus J, Haugarvoll K, Latsoudis H, Plaitakis A, Ferreira JJ, Sampaio C, Bonifati V, Wu RM, Zabetian CP, Farrer MJ. Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. Parkinsonism Relat Disord. 2009 15(6):466-7. C. Spanaki, H. Latsoudis and A Plaitakis. LRRK2 Mutations on Crete: L1441H Associated with PD Evolving to PSP. Neurology. 2006 67(8):1518-9.