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The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural, Atay; Simsir, Gülsah; Tekgül, Seyma; Koçoglu, Cemile; Akçimen, Fulya; Kartal, Ece; Sen, Nesli E; Lahut, Suna; Ömür, Özgür; Saner, Nazan; Gül, Tugçe; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Pirkevi Çetinkaya, Caroline; Gündogdu Eken, Asli; Sahbaz, Irmak; Kovancilar Koç, Müge; Öztop Çakmak, Özgür; Hanagasi, Hasmet; Bilgiç, Basar; Eraksoy, Mefkure; Gündüz, Aysegül; Apaydin, Hülya; Kiziltan, Günes; Özekmekçi, Sibel; Siva, Aksel; Altintas, Ayse; Kaya Güleç, Zeynep E; Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Durmus, Hacer; Sahin, Erdi; Çakar, Arman; Tüfekçioglu, Zeynep; Tektürk, Pinar; Çorbali, M Osman; Tireli, Hülya; Akdal, Gülden; Yis, Uluç; Hiz, Semra; Sengün, Ihsan; Bora, Elçin; Serdaroglu, Gül; Erer Özbek, Sevda; Agan, Kadriye; Ince Günal, Dilek; Us, Önder; Kurt, Semiha G.
Afiliación
  • Vural A; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.
  • Simsir G; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Tekgül S; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Koçoglu C; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Akçimen F; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Kartal E; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Sen NE; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Lahut S; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Ömür Ö; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Saner N; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Gül T; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Bayraktar E; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Palvadeau R; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Tunca C; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Pirkevi Çetinkaya C; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Gündogdu Eken A; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Sahbaz I; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Kovancilar Koç M; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Öztop Çakmak Ö; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Hanagasi H; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Bilgiç B; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
  • Eraksoy M; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Gündüz A; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.
  • Apaydin H; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Kiziltan G; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Özekmekçi S; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Siva A; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Altintas A; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Kaya Güleç ZE; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Parman Y; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Oflazer P; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Deymeer F; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.
  • Durmus H; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Sahin E; Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Çakar A; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Tüfekçioglu Z; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Tektürk P; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Çorbali MO; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Tireli H; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Akdal G; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Yis U; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Hiz S; Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Sengün I; Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
  • Bora E; Department of Neurology, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
  • Serdaroglu G; Department of Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Erer Özbek S; Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Agan K; Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Ince Günal D; Division of Clinical Neurophysiology, Department of Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Us Ö; Department of Medical Genetics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Kurt SG; Division of Child Neurology, Department of Pediatrics, Ege University Medical School, Izmir, Turkey.
Mov Disord ; 36(7): 1676-1688, 2021 07.
Article en En | MEDLINE | ID: mdl-33624863
BACKGROUND: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. OBJECTIVE: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. METHODS: Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype. RESULTS: 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. CONCLUSION: With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey. © 2021 International Parkinson and Movement Disorder Society.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Atrofia Óptica / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Atrofia Óptica / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos