Researcher:
Tunca, Ceren

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Ceren

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Tunca

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Tunca, Ceren

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2018 - 201922020 - 20224

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    Clinical and genetic features of SPG11: A single center experience
    (Lippincott Williams & Wilkins, 2020) Çakar, Arman; Gezegen, Haşim; Başak, Nazlı; Durmuş-Tekçe, Hacer; Parman, Fatma Yeşim; N/A; N/A; Tunca, Ceren; Bayraktar, Elif; Researcher; PhD Student; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); N/A; Graduate School of Health Sciences; N/A; N/A
    Objective: To investigate the clinical and genetic characteristics of the patients with Spastic Paraplegia 11 (SPG11). Background: SPG11 is the most frequent subtype of the recessively inherited hereditary spastic paraplegias (HSP). Caused by the mutations in the SPG11 gene, the disease usually results in a complex phenotype, characterized by intellectual disability, dopa-responsive dystonia, and motor neuropathy accompanied by spasticity in the lower limbs. Design/Methods: We retrospectively evaluated the clinical and genetic features of the 7 patients from 6 unrelated families, diagnosed with SPG11 at the Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, between 2010 and 2019. Mutations in SPG11 were identified by whole exome sequencing (WES). Results: Five patients were male. Mean age at onset was 18.85±5.42 (ranges 13–26 years). All patients, except one with a compound heterozygous mutation, were born to consanguineous marriages. Family history was positive in three probands. All patients had spasticity in the lower limbs. Neuropsychological tests were performed in four patients, and three of them showed signs of intellectual disability. One patient had sensorineural hearing loss, and one had task specific dystonia. One patient had horizontal and vertical nystagmus and another patient had opthalmoparesis accompanied by dysarthria. Interestingly, her sibling did not have these clinical features. Four patients had findings in the EMG consistent with anterior horn disease and one patient showed signs of sensorimotor polyneuropathy. EMG findings were normal in the other patients. Four patients had thin corpus callosum. One patient had hydrocephalus, hydromyelia and tethered cord. Cerebrospinal fluid (CSF) protein was elevated in one patient. Conclusions: Our study highlighted that the phenotypic spectrum of SPG11 can be observed in a wide range. Revealed mutations may enlighten the hot-spot regions of the SPG11 gene in the Turkish population.
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    Phenotypic and genotypic features of patients diagnosed with als in the city of Sakarya, Turkey
    (Springer, 2020) Kotan, Dilcan; Ayaş, Zeynep Özözen; Güngen, Belma Doğan; Akçimen, Fulya; N/A; N/A; Tunca, Ceren; Başak, Ayşe Nazlı; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); N/A; School of Medicine; N/A; 1512
    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease leading to motor neuron damage. In this study, the clinical, demographic, and genetic features of ALS patients in the city of Sakarya, Turkey, were investigated. Patients with an established diagnosis of ALS according to the Awaji criteria were included. Age, sex, age at onset of ALS, initial complaints, consanguineous marriage, and genetic features were retrospectively investigated. Conventional genetic analysis and NGS were used for molecular evaluation of patients. A total of 55 probands (10 familial, 45 sporadic) in whom ALS was suspected due to their phenotypic features were included. Thirty-two patients were male (58.2%), and 23 were female (41.8%); their mean ages were 62.65 +/- 13 years. The mean age of onset for 37 familial patients from 10 families was 49.9 years. Two cases had juvenile-onset. Fourteen (25.5%) bulbar-onset versus 40 (72.7%) limb-onset patients were detected; one patient had both. Six (10.9%) patients showed marked frontotemporal dementia. Twenty-nine (52.7%) patients died during the follow-up period. Genetic analysis identified causative variants in eleven cases, carrying variants in six different ALS genes (C9orf72,SOD1,VCP,SPG11,TBK1, and SH3TC2). Genetic investigations have revealed more than 40 genes to be involved in the pathogenesis of ALS. Our relatively small study cohort restricted to one province of Turkey, however, prone to migration, consists of 10/55 familial ALS cases, which harbor two rare (SH3TC2-p.Met523Thr and TBK1-p.Glu643del) and two novel (SPG11-p.Lys656Valfs*11 and VCP-p.Arg191Pro) mutations contributing to the literature.
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    Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome
    (Wiley, 2018) Akçimen, Fulya; Bağcı, Işın S.; Eken, Aslı Gündoğdu; Ruzicka, Thomas; Vural, Seçil; Vural, Atay; Tunca, Ceren; Başak, Ayşe Nazlı; Faculty Member; Faculty Member; Other; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; School of Medicine; School of Medicine; 189340; 182369; N/A; 1512
    IntroductionSjogren-Larsson syndrome (SLS) is a rare congenital disorder characterized by the triad of ichthyosis, spasticity, and mental retardation. Patients are usually referred to dermatology clinics during infancy. As paraplegia becomes the most debilitating symptom of the disease within a few years, ichthyosis, although a major burden for the patient, takes a back seat. Optimum treatment of ichthyosis in these children and the effect of treatment on different aspects such as severity of the ichthyosis, pruritus, or quality of life of the patients' and their caregivers is not well established. Materials and MethodsGenetic background of eight patients from three families diagnosed clinically with SLS was determined with whole-exome and Sanger sequencing. Clinical phenotypes, laboratory findings, magnetic resonance imaging (MRI), and treatment of the ichthyosis with acitretin were assessed. ResultsAll patients had the classical triad of Sjogren-Larsson syndrome. Genetic analysis revealed that one patient had a novel c.799-1 (+/+) homozygous splicing mutation in the ALDH3A2 gene. Other patients had the c.683G>A p.R228H (NM_000382.2) mutation in the same gene. Other manifestations included skeletal anomalies, enamel hypoplasia, bilateral T2-hyperintensities in white matter, and moderate-severe pruritus. Acitretin treatment in a maintenance dose of 0.25mg/kg/day decreased the severity of ichthyosis in all children. It increased quality of life significantly in all of the children and their caregivers. ConclusionWe conclude that ichthyosis can be treated effectively with low-dose acitretin in children with Sjogren-Larsson syndrome, and this treatment is associated with a significant improvement in the quality of life.
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    A combined clinical and computational approach to understand the SOD1(A4T)-mediated pathogenesis of rapidly progressive familial amyotrophic lateral sclerosis
    (Springer Heidelberg, 2022) Diker, Sevda; Gelener, Pınar; Teralı, Kerem; Ergören, Mahmut Çerkez; Ersin, Tan; N/A; N/A; Tunca, Ceren; Başak, Ayşe Nazlı; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); N/A; School of Medicine; N/A; 1512
    Here, we aim to provide a comprehensive clinical and biomolecular description of familial amyotrophic lateral sclerosis (fALS) in a 25-year-old female patient with respect to the SOD1(A4T) genotype. The clinical diagnosis of the disease was based on family history, neurological examination, electroneurophysiological studies, and revised El Escorial criteria. The heterozygous presence of the A4T mutation in the proband was confirmed by PCR coupled with Sanger sequencing of exon 1 of the SOD1 gene. The mutation was introduced in silico into the three-dimensional structure of the native protein. After energy minimization and quality assessment, non-covalent interactions around threonine-4 and changes in protein stability were calculated computationally. The patient differed widely in age at onset, initial neurological symptoms and findings, and survival time from her kindred, in which several members are affected. SOD1(A4T)-linked fALS in this case had bulbar involvement at onset, a combination of lower and upper motor neuron signs and showed rapid progression. Unlike alanine-4, threonine-4 failed to engage in hydrophobic interactions with the vicinal non-polar amino acids. The overall fold of the modeled SOD1(A4T) mutant remained intact, but unfolding free energy estimations disclosed a decrease in the protein's stability. We report a phenotypically distinct patient with fALS due to the SOD1(A4T) mutation and further expand the largest pedigree ever published for SOD1(A4T)-linked fALS. Genotype-phenotype correlation in fALS is complex, and it demands detailed clinical investigation and advanced scientific research. Awareness of the broadened phenotypic spectrum might potentially enhance the diagnosis and genetic counseling of fALS.
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    A biallelic mutation links myorg to autosomal-recessive primary familial brain calcification
    (Oxford University Press (OUP), 2019) Forouhideh, Yalda; Mueller, Kathrin; Ruf, Wolfgang; Assi, Muhannad; Seker, Tuncay; Knehr, Antje; Strom, Tim M.; Gorges, Martin; Schradt, Falk; Meitinger, Thomas; Ludolph, Albert C.; Pinkhardt, Elmar H.; Kassubek, Jan; Uttner, Ingo; Weishaupt, Jochen H.; N/A; Tunca, Ceren; Başak, Ayşe Nazlı; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); N/A; School of Medicine; N/A; 1512
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    PublicationOpen Access
    Revisiting the complex architecture of ALS in Turkey: expanding genotypes, shared phenotypes, molecular networks, and a public variant database
    (Wiley, 2020) Şeker, Tuncay; Akçimen, Fulya; Coşkun, Cemre; Zor, Seyit; Kocoğlu, Cemile; Kartal, Ece; Şen, Nesli Ece; Hamzeiy, Hamid; Erimiş, Aslıhan Özoğuz; Norman, Utku; Karakahya, Oğuzhan; Olgun, Gülden; Akgün, Tahsin; Durmuş, Hacer; Şahin, Erdi; Çakar, Arman; Gürsoy, Esra Baar; Yıldız, Gülşen Babacan; İsak, Barış; Uluç, Kayıhan; Hanağası, Haşmet; Bilgiç, Başar; Turgut, Nilda; Aysal, Fikret; Ertaş, Mustafa; Boz, Cavit; Kotan, Dilcan; İdrisoğlu, Halil; Soysal, Aysun; Adatepe, Nurten Uzun; Akalın, Mehmet Ali; Koç, Filiz; Tan, Ersin; Deymeer, Feza; Taştan, Öznur; Çiçek, A. Ercüment; Kavak, Erşen; Parman, Yeşim; Tunca, Ceren; Bayraktar, Elif; Palvadeau, Robin Jerome; Oflazer, Piraye; Başak, Ayşe Nazlı; Researcher; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; N/A; N/A; N/A; N/A; 1512
    The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with similar to 70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlightsDECR1, ATL1, HDAC2, GEMIN4, andHNRNPA3as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).