Browsing by Author "Kotan, Dilcan"
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Publication A database for screening and registering late onset pompe disease in Turkey(Elsevier, 2018-03-01) Gökyiğit, Munevver Çelik; Ekmekçi, Hakan; Durmuş, Hacer; Karlı, Necdet; Köseoğlu, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; Koytak, Pınar Kahraman; Karasoy, Hatice; Yaman, Aylin; Şengün, İhsan Şükrü; Sayın, Refah; Tiftikcioğlu, Bedile İrem; Soysal, Aysun; Tutkavul, Kemal; Bayrak, Ayşe Oytun; Kisabay, Ayşin; Elçi, Mehmet Ali; Yayla, Vildan; Yılmaz, İbrahim Arda; Çzdamar, Sevim Erdem; Erdoğan, Cagdas; Taşdemir, Nebahat; Oflazer, Piraye Serdaroğlu; Turkish Study Grp Late Onset Pompe; KARLI, HAMDİ NECDET; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı; FCA-7755-2022The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey.Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.Item Geç tanı alan multifokal motor nöropatili bir olgu(Uludağ Üniversitesi, 2015-06-24) Kotan, Dilcan; Köksal, Semra Alaçam; Gündoğan, Aslı AksoyMultifokal motor nöropati, duyu bozukluğunun eşlik etmediği, motor sinirlerin asimetrik güçsüzlüğü ile karakterize yavaş progresif bir nöropatidir. Bu yazıda, 57 yaşındaki erkek hastada şikayetlerin varlığından onbeş yıl sonra multifokal motor nöropati varlığını ortaya koyduk. Tedavi amacıyla IVIg 0.5 mg/kg/gün başlangıçta 5 gün, sonrasında bir gün süre ile 4 hafta aralıkla uygulandı ve oldukça iyi yanıt gözlendi. Uzun yıllar herediter nöropati düşünülen ve torununda benzer bulgular olan bu olguda elektrofizyolojik bulgular kısmen, serolojik bulgular ise güçlü bir şekilde tanıyı desteklemiş ve tedaviye çok belirgin yanıt ile edinsel nöropatilerin teşhis ve tedavisinin önemine dikkat çekilmiştir.Item Kronik i̇nflamatuar demiyelinizan nöropati ve meme kanseri: Ender bir birliktelik(Uludağ Üniversitesi, 2016-06-01) Kotan, Dilcan; Alemdar, MuratKronik inflamatuar demiyelinizan polinöropati (KIDP), otoimmun mekanizmalar sonucu gelişen periferik sinir hastalığıdır. Klinik prezentasyonu ve gidişi değişkenlik gösterebilir. Genellikle üst ve alt ekstremitelerde güçsüzlük, uyuşma ve spontan ağrı ile başlar. Hastaların yaklaşık tama yakınında ekstremitelerde motor kuvvetsizlik ve derin tendon reflekslerinin kaybı görülür, bulgulara duyusal bulgular ve fasyal paralizide eşlik edebilir. KIDP’nin kanserlerle olan ilişkisi uzun zamandan beri bilinmektedir. Bu yazıda, motor ve duyusal bulgular ile semptom veren, nörolojik defisitlerin ve nöropatik ağrının varlığına rağmen memede kitle sonrası kanser tedavisine yoğunlaşılan, teşhisi ve tedavisi geciken KİDP’ li bir kadın olgu sunduk.Publication The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice(Wiley, 2021-01-15) Vural, Atay; Şimşir, Gülşah; Tekgül, Şeyma; Koçoğlu, Cemile; Akçimen, Fulya; Kartal, Ece; Şen, Nesli E.; Lahut, Suna; Ömür, Özgür; Şaner, Nazan; Gül, Tuğçe; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Çetinkaya, Caroline Pirkevi; Eken, Aslı Gündoğdu; Şahbaz, Irmak; Koç, Müge Kovancılar; Çakmak, Özgür Öztop; Hanağası, Haşmet; Bilgiç, Başar; Eraksoy, Mefkure; Gündüz, Ayşegül; Apaydın, Hülya; Kızıltan, Güneş; Özekmekci, Sibel; Siva, Aksel; Altıntaş, Ayşe; Güleç, Zeynep E. Kaya; Parman, Yeşim; Oflazer, Piraye; Deymeer, Feza; Durmuş, Hacer; Şahin, Erdi; Çakar, Arman; Tüfekcioğlu, Zeynep; Tektürk, Pınar; Çorbalı, M. Osman; Tireli, Hülya; Akdal, Gülden; Yis, Uluç; Hız, Semra; Şengün, İhsan; Bora, Elçin; Serdaroğlu, Gül; Özbek, Sevda Erer; Ağan, Kadriye; Günal, Dilek İnce; Us, Önder; Kurt, Semiha G.; Aksoy, Dürdane; Tokcaer, Ayşe Bora; Elmas, Muhsin; Gültekin, Murat; Kumandaş, Sefer; Acer, Hamit; Özçora, Gül D. Kaya; Yayla, Vildan; Soysal, Aysun; Genç, Gencer; Gülluoğlu, Halil; Kotan, Dilcan; Ayas, Zeynep Özözen; Şahin, Hüseyin A.; Tan, Ersin; Topcu, Meral; Topcuoğlu, Esen Saka; Akbostancı, Cenk; Koç, Filiz; Ertan, Sibel; Elibol, Bülent; Başak, A. Nazlı; ERER ÖZBEK, ÇİĞDEM SEVDA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; JGR-7854-2023Background 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.Publication The distinct genetic pattern of als in turkey and novel mutations(Elsevier Science, 2015-04-01) Özoğuz, Aslıhan; Uyan, Özgün; Birdal, Güneş; İskender, Ceren; Kartal, Ece; Lahut, Suna; Ömür, Özgür; Ağım, Zeynep Sena; Eken, Aslı Gündoğdu; Sen, Nesli Ece; Kavak, Pınar; Saygi, Ceren; Sapp, Peter C.; Keagle, Pamela; Parman, Yesim; Tan, Ersin; Koc, Filiz; Deymeer, Feza; Oflazer, Piraye; Hanagasi, Hasmet; Gurvit, Hakan; Bilgic, Basar; Durmus, Hacer; Ertas, Mustafa; Kotan, Dilcan; Akalin, Mehmet Ali; Gulluoglu, Halil; Zarifoglu, Mehmet; Aysal, Fikret; Dosolu, Nilgun; Bilguvar, Kaya; Gunel, Murat; Keskin, Ozlem; Akgun, Tahsin; Ozcelik, Hilmi; Landers, John E.; Brown, Robert H.; Basak, A. Nazli; ZARİFOĞLU, MEHMET; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; EHN-5825-2022The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. (C) 2015 Elsevier Inc. All rights reserved.