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    Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis
    (Bentham Science Publ Ltd, 2022) Dogan, Mustafa; Eroz, Recep; Tecellioglu, Mehmet; Gezdirici, Alper; Cevik, Betul; Baris, Ibrahim
    Background: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5-10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial EOAD cases have been explained, the genetic cause of the vast proportion of cases has not been explained. The variant Alzheimer's disease with spastic paraparesis (varAD) is defined as a rare clinical entity characterized by early-onset dementia, spasticity of the lower extremities, and gait disturbance. Although the disease was first associated with variants in exon 9 of the PSEN1 gene, it was later shown that variations in other exons were also responsible for the disease. Objective: The current study aims to raise awareness of varAD, which occurs as a rare phenotype due to pathogenic variants in PSEN1. In addition, we aimed to evaluate the spectrum of mutations in varAD patients identified to date. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by Sanger sequencing. Also, a review of the molecularly confirmed patients with (varAD) from the literature was evaluated. Results: We identified a heterozygous splicing variant (c.869-1G>A) in the PSEN1 gene, in a family with two affected individuals who present with varAD. We reported the clinical and genetic findings from the affected individuals. Conclusion: We present the detailed clinical and genetic profiles of a Turkish patient with the diagnosis of varAD together with subjects from the literature. Together, we think that the clinical characteristics and the effect of the (c.869-1G>A) variant will facilitate our understanding of the PSEN1 gene in AD pathogenesis.
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    Hot Water Epilepsy: Is It An Autosomal Dominant Inherited Disorder?
    (Kare Publ, 2014) Kurt, Semiha; Yigit, Serbulent; Unaldi, Hatice Karaer; Kaplan, Yuksel; Aksoy, Durdane; Cevik, Betul; Solmaz, Volkan
    Objectives: Hot water epilepsy (HWE), also called as bathing epilepsy is a reflex epilepsy in which seizures are triggered by the stimulus of bathing in hot water. The relationship between epilepsy syndromes and genetic have been known for a long time. In this study, we aimed to determine the inheritance pattern of the five HWE cases with a positive family history. Methods: Pedigrees of the five index cases had a positive family history were drawn and their family members were interviewed. Age, sex, seizure types (classified according to ILAE Task Force on Classification and Terminology), seizure frequency, neurological examination findings, if available EEG and MRI results of patients were recorded. Results: Sixteen patients from five families were included in the study. The patients (ten male, six female) were between 15 and 73 years of age. Four families without consanguineous marriage had patients with HWE at least two generations. One family with consanguineous marriage had with HWE two generations. Conclusion: When analyzed pedigrees, except one family, the disease appears at least two generation in the same family without consanguineous marriage. Our data suggest that the HWE may be an autosomal dominant inherited disorder with low- penetrance and lowexpressivity.
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    The Relationship Between Boston Questionnaire and Electrophysiological Findings in Carpal Tunnel Syndrome
    (Galenos Yayincilik, 2010) Kurt, Semiha; Cevik, Betul; Kaplan, Yuksel; Karaer, Hatice; Erkorkmaz, Unal
    Objective: Boston Questionnaire (BQ) is a method, which is used for assessment of severity of symptoms and functional status in carpal tunnel syndrome (CTS). In this study, we aimed to investigate the relationship between electrophysiological findings and scores of BQ including functional capacity and severity of symptoms. In addition, the effect of body weight on this relationship was investigated. Methods: 98 consecutive patients, who were referred to our electrophysiology laboratory with prediagnosis of CTS and had no systemic disease such as diabetes mellitus, rheumatoid arthritis, and thyroid disease, were included this study. A detailed neurological examination was performed to all patients. Median and ulnar nerve conduction studies were carried out. The patients with Body Mass Index (BMI) exceeding 30 were considered obese. BQ was applied to all patients. Results: There was a weak but a significant correlation between the results of the nerve conduction studies and the functional capacity scores. This correlation was not found in obese patients. No correlation between symptom severity scores and the findings of nerve conduction studies was determined. Conclusion: In the literature, there are a small number of studies that investigated the relationship between BQ scores and electrophysiological findings. The relationship was detected at some of there where as was not at remainders. In our study, even though the results of the nerve conduction studies were found to be correlated with functional capacity scores, there was no correlation between symptom severity scores and nerve conduction study findings. Although this relationship was found to be more significant in the non-obese patients, no relationship was observed in obese patients. (Archives of Neuropsychiatry 2010;47:237-40)