A5000001487- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Peripheral Neuropathies and Disorders
- Myasthenia Gravis and Thymoma
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Cancer Treatment and Pharmacology
- Mitochondrial Function and Pathology
- Botulinum Toxin and Related Neurological Disorders
- Long-Term Effects of COVID-19
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- Sarcoidosis and Beryllium Toxicity Research
- Genomics and Rare Diseases
- COVID-19 Clinical Research Studies
- Antifungal resistance and susceptibility
- Cerebrovascular and genetic disorders
- Peptidase Inhibition and Analysis
- Multiple Sclerosis Research Studies
- RNA regulation and disease
- Alzheimer's disease research and treatments
- Parathyroid Disorders and Treatments
- Free Radicals and Antioxidants
Istanbul University
2016-2025
National Hospital for Neurology and Neurosurgery
2023-2024
University College London
2023-2024
VIB-UAntwerp Center for Molecular Neurology
2021
Boğaziçi University
2021
University of Antwerp
2021
Max Planck Institute of Immunobiology and Epigenetics
2021
Medical University of Sofia
2021
Neurology, Inc
2020
Npistanbul Brain Hospital
2014
Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies predominantly against the acetylcholine receptor (AChR). Specific T cells subsets are required for long-term antibody responses and cytokines secreted mainly from CD4+ regulate B cell production. The aim of this study was to assess differences in their characterization MG subgroups as well effect immunosuppressive (IS) therapy on cytokine activity. Clinically diagnosed patients with AChR antibodies (AChR-MG) or...
Congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathies (HSAN) are clinically genetically heterogeneous disorders exclusively or predominantly affecting the neurons. Due rarity of diseases findings based mainly on single case reports small series, knowledge about these is limited. Here, we describe molecular workup a large international cohort CIP/HSAN patients including from normally under-represented countries. We identify 80 previously unreported pathogenic...
Abstract Background Charcot–Marie‐Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze genetic spectrum and describe phenotypic features in a large cohort from Türkiye. Methods Demographic clinical findings were recorded. Patients initially screened for PMP22 duplication. Targeted sequencing or whole‐exome was performed duplication‐negative patients. Results Overall, 311 patients 265 families included. Demyelinating CMT (67.4%) more than axonal...
ABSTRACT Background and Aims In 2019, we conducted a cross‐sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed at investigating disease progression in 26 CMT4B1/CMT4B2, recruited from previous study among Inherited Neuropathy Consortium. Materials Methods retrospectively analysed MRC scores nine muscle pairs, Charcot‐Marie‐Tooth Examination Score (CMTES), minimal dataset of (walking difficulties,...
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, full genotype-phenotype spectrum and progression remain to be defined. Notably, a multicenter phase 2/3 study test efficacy govorestat (NCT05397665), new aldose reductase inhibitor, is currently ongoing. Diagnosing CMT-SORD will become imperative when disease-modifying therapies available. In this cross-sectional multicentre...
Abstract Myasthenia gravis (MG) is an immune-mediated disease frequently associated with thymic changes. Increased T helper 17 (Th17) cell activity and dysfunctional regulatory (Treg) cells have been demonstrated in subgroups of MG. On the other hand, hypoxia-inducible factor 1 (HIF-1) has shown to regulate Th17/Treg balance by inducing Th17 differentiation while attenuating Treg development. To identify underlying mechanisms different pathologies MG development, we evaluated samples from...
SOD1 is the first identified causative gene for amyotrophic lateral sclerosis. Recently, a novel syndrome, presenting with severe childhood-onset spastic tetraplegia and axial hypotonia caused by homozygous truncating variants in gene, described. A 22-month-old boy was admitted loss of motor functions that began at age 9 months. Neurological significant hyperekplexia-like jerky movements. In WES, we found variant (c.52_56del5ins154) resulting total mRNA expression real-time PCR analysis....
The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS ethnically heterogeneous yet inbred Turkish population. Familial (fALS) accounts for 20% of our cases. rates consanguinity are 30% fALS 23% (sALS). Major genes explained disease cause only 35% fALS, as compared with ~70% Europe North America. Whole exome...
Abstract 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 are more common than Western European populations. Objective To identify the prevalence structure Turkish population. Methods Our cohort consisted 1296 index cases 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed screen for...
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder due to mutations in the phenylalanine hydroxylase (PAH) gene, which converts (PHE) tyrosine. Although it principally a childhood disorder, rare cases, first signs of PKU may develop late adulthood resembling common neurological diseases. Here we report 59-year-old, previously normal functioning man who was admitted with blurred vision, cognitive problems, and gait difficulty that began 8 months before. He had brisk reflexes...
Abstract Background and Aims This study aimed to identify the clinical characteristics electrodiagnostic subtypes of Guillain‐Barré syndrome (GBS) in Istanbul. Methods Patients with GBS were prospectively recruited between April 2019 March 2022 two examinations performed on each patient. The criteria Ho et al., Hadden Rajabally Uncini al. compared for differentiation demyelinating axonal subtypes, their relations anti‐ganglioside antibodies analyzed. Results One hundred seventy‐seven...
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with variable age onset. Nevertheless, the definitive validity SPG12 remains to be confidently confirmed due scarcity supporting evidence. In this study, we and validated seven novel or ultra-rare homozygous loss-of-function 14 individuals from consanguineous distal hereditary motor neuropathy (dHMN) using exome, genome Sanger...
Abstract Follicular helper (Tfh), peripheral (Tph), and regulatory (Treg) T cells are involved in myasthenia gravis (MG) pathogenesis, an autoimmune disorder arising from autoantibodies targeting neuromuscular junction proteins. This study explores the impact of low‐dose IL‐2 on Tfh, Tph, Treg vitro MG. Acetylcholine‐receptor antibody‐positive MG (AChR‐MG), muscle‐specific kinase (MuSK‐MG) patients, healthy controls (HC) were studied. Blood cultured with/without compared by ratios...
<strong>Introduction</strong> - Immune-checkpoint inhibitors (ICI) are effective drugs in cancer treatment that block immune checkpoints and stimulate an attack on cells. However, various side effects were reported with ICIs. Peripheral nervous system (PNS) three times more frequent than those the central system.<br><strong>Case report </strong>-<strong> </strong>A 63-year-old male patient was admitted to our department a 10-day history of dyspnea, diplopia, generalized weakness. He had...
Inherited peripheral neuropathies (IPNs) are a group of genetic disorders the nervous system in which neuropathy is only or most predominant clinical feature. The common type IPN Charcot-Marie-Tooth (CMT) disease. Autosomal recessive CMT (ARCMT) generally more severe than dominant and its basis poorly understood due to high diversity. Here, we report findings from 56 consanguineous Turkish families initially diagnosed with disease.We screened GDAP1 gene our cohort as it commonly mutated...