A5086689881- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Autism Spectrum Disorder Research
- Mitochondrial Function and Pathology
- Alzheimer's disease research and treatments
- Genetics and Neurodevelopmental Disorders
- Cerebral Palsy and Movement Disorders
- Autoimmune Neurological Disorders and Treatments
- Neuroscience and Neuropharmacology Research
- Neurogenetic and Muscular Disorders Research
- Balance, Gait, and Falls Prevention
- Hereditary Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Neurotransmitter Receptor Influence on Behavior
- Peripheral Neuropathies and Disorders
- Ginkgo biloba and Cashew Applications
- Stroke Rehabilitation and Recovery
- Parkinson's Disease and Spinal Disorders
- RNA regulation and disease
- Cholesterol and Lipid Metabolism
- Neurosurgical Procedures and Complications
- Transcranial Magnetic Stimulation Studies
Hacettepe University
2016-2025
Institute of Neurological Sciences
2003-2025
Hacettepe University Hospital
1999-2022
Yüksek İhtisas Üniversitesi
2021
Ankara University
2012
Juntendo University
2004
Hiroshima University
2004
Massachusetts Institute of Technology
1996
Columbia University
1994
to provide a revised version of earlier guidelines published in 2006.primary dystonias are chronic and often disabling conditions with widespread spectrum mainly young people.primary classified as pure dystonia, dystonia plus or paroxysmal syndromes. Assessment should be performed using validated rating scale for dystonia. Genetic testing may after establishing the clinical diagnosis. DYT1 is recommended patients primary limb onset before age 30, those an affected relative early-onset DYT6...
To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).Multimodal RFC1 screening (PCR, Southern blot, whole-exome/genome sequencing-based approaches) combined with cross-sectional deep phenotyping in (1) cross-European cohort A (70 families) ≥2...
Estimates of the spectrum and frequency pathogenic variants in Parkinson's disease (PD) different populations are currently limited biased. Furthermore, although therapeutic modification several genetic targets has reached clinical trial stage, a major obstacle conducting these trials is that PD patients largely unaware their status and, therefore, cannot be recruited. Expanding number investigated PD-related genes including related to disorders with overlapping features large,...
Abstract The parkin protein functions as a RING‐type ubiquitin ligase. Considering the possibility that impaired ubiquitin‐proteosomal system activity may impair antioxidant defenses and enhance oxidative stress, we have investigated of mitochondrial respiratory enzymes in patients with gene mutations. A significant decrease leukocyte complex I was found both mutations (62.5%) idiopathic PD (64.5%) compared age‐matched controls ( P < 0.001). Complex IV also decreased significantly (60%),...
Significance Essential tremor is one of the most frequent movement disorders humans, but its causes remain largely unknown. In a six-generation family with both essential and Parkinson disease, we identified rare missense mutation HTRA2 as causative allele. Family members homozygous for this allele were more severely affected than those heterozygous The same had been associated characteristics in mouse mutants disease some, not all, epidemiologic studies. Our results suggest that may be...
There are currently no standard diagnostic criteria for characterizing advanced Parkinson's disease (APD) in clinical practice, a critical component determining ongoing care and therapeutic strategies, including transitioning to device-aided treatment. The goal of this analysis was determine the proportion APD vs. non-advanced PD (non-APD) patients attending specialist clinics demonstrate burden APD. OBSERVE-PD, cross-sectional, international, observational study, conducted with 2615 at 128...
CHRONIC intermittent exposure to psychomotor stimulants induces in the striatum expression of Fos- related proteins (Fras) that persist after end drug treatment. We carried out experiments determine whether such Fras ('chronic Fras') require dopamine D1-class receptor function for their persistent striatum. chronically administered cocaine rats a behavioral sensitization protocol and blocked D1- class receptors with SCH23390 before final challenge. Western blotting immunohistochemical...
To determine the frequency, distribution, and clinical features of Parkinson disease (PD) with PINK1 mutations.Retrospective genetic review.University hospital.We performed extensive mutation analyses in 414 PD patients negative for parkin mutations (mean [SD] age at onset, 42.8 [14.3] years), including 391 unrelated (190 sporadic 201 probands familial PD) from 13 countries.We found 10 9 families identified 7 novel (2 homozygous [p.D297MfsX22 p.W437R] 5 single heterozygous [p.A78V,...
Abstract Background: Cortical cholinergic deficiency occurs in Parkinson's disease (PD) and is more severe PD dementia (PDD). Short‐latency afferent inhibition (SAI) can be used as an vivo test for the evaluation of circuit cerebral motor cortex. Methods: SAI neuropsychological profile were studied nondemented PD, PDD, Alzheimer's (AD) patients, age‐matched controls. Results: was significantly impaired AD cases (94.7 ± 6.2 versus 55.5 4.0; P < 0.0001). In it not different from controls...
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience diagnostic delay. Although early diagnosis and treatment initiation can improve symptoms prognosis, standardised approach to diagnosis, management of patients not yet established. Aim To assess expert opinion on best care practices for using modified Delphi method. Methods A multidisciplinary group healthcare...
Abstract Glucocerebrosidase 1 ( GBA1 ) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe p.L444P p.D409H) have different PD phenotypes, with differences in age at onset, progression, severity of motor non‐motor symptoms. We hypothesize that cause accumulation α‐synuclein by affecting cross‐talk between cellular protein degradation mechanisms, leading to neurodegeneration. Accordingly, we tested whether...
The authors performed linkage analysis in 39 families with autosomal recessive early-onset PD (AR-EOPD) negative for <i><i>parkin</i></i> and <i>DJ-1</i> mutations. Eight including three Japanese, two Taiwanese, one Turkish, Israeli, Philippine showed evidence of PARK6 multipoint log the odds (lod) score 9.88 at D1S2732. results indicate worldwide distribution PARK6-linked parkinsonism.
Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In present study, we investigated methylation status SNCA PARK2 patients with early-onset (EOPD). Materials methods promoter region was evaluated by specific-PCR (MSP) 91 EOPD 52 healthy individuals. Results regions were significantly lower compared control group (P = 0.013 P 0.03, respectively). We also found that might be associated positive family history PD 0.042)....
Abstract Objective Pathophysiological backgrounds of idiopathic Parkinson’s disease (IPD) and autosomal recessive monogenic (AR-PD) have common features that can be assessed through multimodal imaging. In this study, the striatal myocardial dopaminergic innervation, brain 18F-FDG metabolism, resting-state functional activity basal ganglia network (BGN) white-matter (WM) microstructure were evaluated in AR-PD with respect to IPD, investigate whether subtyped as “brain-first” parkinsonism...
SummaryParkinson disease (PD) is a common neurodegenerative condition associated with degeneration of dopaminergic neurons in the zona compacta substantia nigra. There increasing evidence that genetic factors play role etiology PD, although heterogeneity likely. An autosomal dominant syndrome many similarities to sporadic PD has been mapped 4q21-22 large Italian pedigree and found be due mutation alpha-synuclein gene. However, this gene appears account for only minority susceptibility locus...
Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and Dyskinesia (UDysRS) were developed as standard tools to rate disease (PD) drug-induced dyskinesias of PD. As these scales have become widely used, there is a need for translation non-English languages. Here we present the standardization Turkish translations.The translated into then back-translated English. These back-translations reviewed by MDS team. After cognitive pretesting, movement disorder specialists...
In this study we investigated the physiologic mechanisms in primary brachial dystonia by analyzing cutaneous EMG silent period during isometric contraction of opponens polhcis muscle.Results from affected and unaffected arms 11 patients with were compared to 7 Parkinson9s disease 16 agematched normal individuals (controls). The onset latency, degree suppression period, rebound at end did not differ significantly between any other group. duration (the S-X interval), however, was prolonged (p...