Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix–Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole‐exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty‐eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data.
Sunday, March 14, 2021
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
ural, A., Şimşir, G., Tekgül, Ş., Koçoğlu, C., Akçimen, F., Kartal, E., Şen, N.E., Lahut, S., Ömür, Ö., Saner, N., Gül, T., Bayraktar, E., Palvadeau, R., Tunca, C., Pirkevi Çetinkaya, C., Gündoğdu Eken, A., Şahbaz, I., Kovancılar Koç, M., Öztop Çakmak, Ö., Hanağası, H., Bilgiç, B., Eraksoy, M., Gündüz, A., Apaydın, H., Kızıltan, G., Özekmekçi, S., Siva, A., Altıntaş, A., Kaya Güleç, Z.E., Parman, Y., Oflazer, P., Deymeer, F., Durmuş, H., Şahin, E., Çakar, A., Tüfekçioğlu, Z., Tektürk, P., Çorbalı, M.O., Tireli, H., Akdal, G., Yiş, U., Hız, S., Şengün, İ., Bora, E., Serdaroğlu, G., Erer Özbek, S., Ağan, K., İnce Günal, D., Us, Ö., Kurt, S.G., Aksoy, D., Bora Tokçaer, A., Elmas, M., Gültekin, M., Kumandaş, S., Acer, H., Kaya Özçora, G.D., Yayla, V., Soysal, A., Genç, G., Güllüoğlu, H., Kotan, D., Özözen Ayas, Z., Şahin, H.A., Tan, E., Topçu, M., Topçuoğlu, E.S., Akbostancı, C., Koç, F., Ertan, S., Elibol, B. and Başak, A.N. (2021), Mov Disord. doi.:10.1002/mds.28518
