Researcher:
Şimşir, Gülşah

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Master Student

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Gülşah

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Şimşir

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Şimşir, Gülşah

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2020 - 20239

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Now showing 1 - 9 of 9
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    Ocular findings of oculomotor apraxia/ataxia type 1
    (Elsevier B.V., 2023) Sönmez, Hatice Kübra; Gülmez Sevim, Duygu; Gültekin, Murat; N/A; N/A; Şimşir, Gülşah; Başak, Ayşe Nazlı; Master Student; Faculty Member; Graduate School of Sciences and Engineering; School of Medicine; N/A; 1512
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    Varying phenotypic spectrum in paroxysmal exercise-induced dystonia: a Turkish family with SLC2A1 pathogenic variant
    (Wiley, 2020) Gültekin, Murat; Bayramov, Ruslan; Şimşir, Gülşah; Başak, Ayşe Nazlı; Master Student; Faculty Member; Graduate School of Sciences and Engineering; School of Medicine; N/A; 1512
    Introduction: Paroxysmal exercise–induced dyskinesia (PED) is characterized by repeated episodes of involuntary movement disorders that are typically caused by prolonged walking or running and mostly caused by SLC2A1 gene mutations. Phenotypes vary from focal dystonia, ataxia, tremor, and complex non-kinesigenic movements to other movement disorders in patients with SLC2A1 mutation. Also, SLC2A1 mutations carriers may present with also other phenotypes such as epileptic seizure and migraine. Case reports: We report fve patients with various phenotypic spectrums of PED in a Turkish family. Whole exome sequencing revealed a likely pathogenic synonymous variant p.Ser324Ser (c.972G>A) in the SLC2A1 gene (ENST00000426263.3) and the variant segregated in all afected family members. Also, other than PED, the phenotypical spectrum of afected individuals in this family includes epilepsy, mental retardation, and weakness. Conclusions: We concluded that family members with the same SLC2A1 gene mutation may show very heterogenous phenotypes. Clinicians should be aware of wide variety of symptoms of the patients with PED. We also emphasized that even if a mutation in the coding sequence does not make an amino acid change, it may cause the disease.
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    Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
    (Springer, 2020) Kaya-Güleç, Zeynep Ece; Genç, Gencer; N/A; Palvadeau, Robin Jerome; Şimşir, Gülşah; Vural, Atay; Çakmak, Özgür Öztop; Aygün, Murat Serhat; Falay, Fikri Okan; Başak, Ayşe Nazlı; Ertan, Fatoş Sibel; Researcher; Master Student; Faculty Member; Faculty Member; Teaching Faculty; Teaching Faculty; Faculty Member; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; N/A; N/A; 182369; 299358; 291692; 246484; 1512; 112829
    SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years.
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    Four turkish families with hyperekplexia: a missense mutation and the exon 1-7 deletion in the glra1 gene
    (Elsevier, 2022) Tezen, Didem; Cokar, Ozlem; Demirbilek, Veysi; Yapici, Zuhal; Başak, Ayşe Nazlı; Şimşir, Gülşah; Faculty Member; Master Student; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; 1512; N/A
    Background: Hyperekplexia is a disease that progresses with excessive startle attacks and is included in the differential diagnosis of epilepsy and many movement disorders.Methods: The WES results were validated in available family members by Sanger sequencing, or in the case of deletion, PCR followed by agarose gel electrophoresis was performed.Results: WES analysis revealed the previously reported homozygous c.277C>T p.Arg93Trp variant in the GLRA1 gene (ENST00000455880.2) in Family 1. In all other three families, the previously reported homozygous dele-tion of exons 1-7 of the GLRA1 gene was identified using CNV analysis based on the WES data.Conclusions: The homozygous exon1-7 deletion has been described several times in different populations and may be a founder mutation in the Kurdish people in Turkey. The family with Arg93Trp variant stems from the Black Sea region of Turkey where close consanguinity is common. These analyses are important to provide genetic counseling to families and for a better understanding of the pathophysiology of the disease.
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    Ophthalmic features in SPA-8 with a homozygous missense variant in the homeobox domain of the NKX6-2
    (2022) Şener, Hidayet; Sevim, Duygu Gülmez; Gültekin, Murat; Şimşir, Gülşah; Başak, Ayşe Nazlı; Master Student; Faculty Member; Graduate School of Sciences and Engineering; School of Medicine; N/A; 1512
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    The complex molecular basis of dystonias in a Turkish cohort
    (Springer, 2020) Yapıcı, Z.; Tekgül, Şeyma; Şimşir, Gülşah; Başak, Ayşe Nazlı; Master Student; Master Student; Faculty Member; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; School of Medicine; 63142; N/A; 1512
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    Varied phenotypic spectrum presenting of paroxysmal exercise–induced dyskinesia: a Turkish family with SLC2A1 mutation
    (Springer-Verlag Italia Srl, 2021) Gultekin, Murat; Dogan, Muhammet Ensar; N/A; N/A; Başak, Ayşe Nazlı; Şimşir, Gülşah; Faculty Member; Master Student; School of Medicine; Graduate School of Sciences and Engineering; Koç University Hospital; 1512; N/A
    Introduction: Paroxysmal exercise-induced dyskinesia (PED) is characterized by repeated episodes of involuntary movement disorders that are typically caused by prolonged walking or running and mostly caused by SLC2A1 gene mutations. Phenotypes vary from focal dystonia, ataxia, tremor, and complex non-kinesigenic movements to other movement disorders in patients with SLC2A1 mutation. Also, SLC2A1 mutations carriers may present with also other phenotypes such as epileptic seizure and migraine. Case reports: We report five patients with various phenotypic spectrums of PED in a Turkish family. Whole exome sequencing revealed a likely pathogenic synonymous variant p.Ser324Ser (c.972G > A) in the SLC2A1 gene (ENST00000426263.3) and the variant segregated in all affected family members. Also, other than PED, the phenotypical spectrum of affected individuals in this family includes epilepsy, mental retardation, and weakness. Conclusions: We concluded that family members with the same SLC2A1 gene mutation may show very heterogenous phenotypes. Clinicians should be aware of wide variety of symptoms of the patients with PED. We also emphasized that even if a mutation in the coding sequence does not make an amino acid change, it may cause the disease.
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    Molecular complexity of spastic ataxias and hereditary spastic paraplegias in Turkey
    (Springernature, 2020) Apaydin, H.; N/A; Şimşir, Gülşah; Tekgül, Şeyma; Ertan, Fatoş Sibel; Çepni, Ece; Master Student; Master Student; Faculty Member; PhD Student; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; School of Medicine; Graduate School of Health Sciences; N/A; 63142; 112829; N/A
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    VPS13D-based disease: expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population
    (Elsevier Masson s.r.l., 2022) Kahyaoğlu, Bülent; Kaya, Zeynep Ece; N/A; Çakmak, Özgür Öztop; Şimşir, Gülşah; Tekgül, Şeyma; Aygün, Murat Serhat; Gökler, Ozan; Palvadeau, Robin Jerome; Başak, Ayşe Nazlı; Ertan, Fatoş Sibel; Faculty Member; Master Student; Researcher; Teaching Faculty; Teaching Faculty; Researcher; Faculty Member; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; N/A; School of Medicine; School of Medicine; College of Sciences; School of Medicine; 299358; N/A; 63142; 291692; 311179; N/A; 1512; 112829
    VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in childhood onset disease. The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. Here, we report the extensive clinical, laboratory and genetic findings of two offspring from consanguineous parents, with ages of disease onset at 57 and 49 with VPS13D-based ataxia. Although conventional magnetic resonance imaging showed mild cerebellar and cerebral atrophy, diffusion tensor imaging, applied for the first time for VPS13D patients, revealed prominent atrophy in U fibers and cerebellopontine tracts. Whole exome sequencing analysis revealed a biallelic Ala4210Val mutation in the VPS13D, reported only once in the literature. Complementary screening of our in-house database consisting of 295 ataxia and hereditary spastic paraplegia patients revealed two further ataxia patients with novel VPS13D variants. Screening the control cohort for VPS13D variants revealed one asymptomatic individual carrying a novel VPS13D variant. In this study, the phenotypic spectrum of VPS13D-based disease is expanded with the description of pre-senile onset predominant ataxia. Further, with the additional novel mutations described, the report is expected to contribute to the understanding of the yet elusive phenotype-genotype correlations in the rare VPS13D-based movement disorder.