Familial Mediterranean fever gene variations could trigger -associated early-onset dystonia and diabetes mellitus: clinical identification of a family with and genetic variation association.

Objectives: We describe the clinical pictures of an index case with dystonia and his family resulting from and genetic variations based on previously published data and discuss the mechanisms that may have brought out the clinical findings.

Methods: A 17-year-old male had generalized dystonia that started at age 6 years, non-febrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14 years. Meanwhile, his 13-year-old sister had the same clinical presentation.

Cross-Cultural Differences in Stigma Associated with Parkinson's Disease: A Systematic Review.

Background: Stigma is an important social attitude affecting the quality of life (QoL) of people with Parkinson's disease (PwP, PD) as individuals within society.

Objective: This systematic review aimed to 1) identify the factors associated with stigma in PD and 2) demonstrate culture-based diversity in the stigmatization of PwP. We also reported data from the Turkish PwP, which is an underrepresented population.

Caregivers' Impression About the Effect of Subthalamic Nucleus Deep Brain Stimulation in the Treatment of Parkinson's Disease.

Aim: To determine caregivers' impressions of the impact of STN-DBS on motor and non-motor symptoms of Parkinson's disease (PD) in patients who underwent subthalamic nucleus deep brain stimulation (STN-DBS), evaluate the relationship of these changes with disease characteristics, and examine their contribution to the daily lives of patients.

Material And Methods: The caregivers of patients who underwent STN-DBS were interviewed over the telephone. All telephone interviews were recorded, and changes in the motor and non-motor symptoms of the patients after STN-DBS were evaluated with a standardized questionnaire.

Risk disclosure in prodromal Parkinson's disease - A survey of neurologists.

Introduction: In the absence of a disease-modifying treatment and prognostic uncertainty, ethics of risk disclosure in prodromal Parkinson's disease (PD) is challenging. Previous studies highlighted several facets of these challenges from the perspective of involved parties. However, to date, the view of neurologists who may encounter individuals with prodromal PD remained unrepresented.

Combined Unilateral Radiofrequency Lesioning of the Motor Thalamus, Field of Forel, and Zona Incerta: A Series of Cases With Dystonia.

Background: Dystonia is a group of disorders characterized by involuntary slow repetitive twisting movements and/or abnormal posture. Surgical options such as neuromodulation through deep brain stimulation and neuroablative procedures are available for patients who do not respond to conservative treatment.

Objective: To present our series of patients with dystonia who were treated with stereotactic combined unilateral radiofrequency lesioning of the motor thalamus, field of Forel, and zona incerta.

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

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 ataxias are more common in Turkey than in Western European populations.

Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.

Patient preference of device-based treatment of Parkinson's disease.

Introduction: Subthalamic nucleus deep brain stimulation (STN-DBS), continuous subcutaneous apomorphine infusion (APO), and levodopa-carbidopa intestinal gel infusion (LCIG) are treatments used to treat severe motor fluctuations and dyskinesia in patients with advanced levodopa responsive Parkinson's disease (PD), who can no longer be managed with available combinations of oral medications. This study aims to evaluate patient choice of one of three device-based treatment methods.

Methods: A total of 58 patients clinically diagnosed with PD were included in the study.

Contribution of functional dopamine D2 and D3 receptor variants to motor and non-motor symptoms of early onset Parkinson's disease.

In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.

Evaluation of the effect of non-ergot dopamine agonists on left ventricular systolic function with speckle tracking echocardiography.

Objective: Parkinson's disease (PD) is a neurological disorder, and ergot dopamine agonists (DAs) are no longer usually preferred in the treatment due to the increased risk of valvular heart disease. Some recent studies have shown that commonly used non-ergot DA also increases the risk of heart failure. On the other hand, there are studies showing conflicting data about this relationship.

Epigenetic approach to early-onset Parkinson's disease: low methylation status of SNCA and PARK2 promoter regions.

Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals.

Assessment of voiding dysfunction in Parkinson's disease: Reliability and validity of the Turkish version of the Danish Prostate Symptom Score.

Aims: To investigate the reliability and validity of the Turkish version of the Danish Prostate Symptom Score (Dan-PSS) questionnaire in patients with Parkinson's disease (PD) and to compare the burden of LUTS (Lower urinary tract symptoms) in men and women.

Methods: For analysis of test-retest reliability, the Turkish version of the Dan-PSS scale was developed using the back translation method, and it was administered on the day of admission and repeated 1 week after in 60 patients with PD. The OAB-q (Overactive Bladder Questionnaire) and PDQ-39 (Parkinson's Disease Questionnaire-39) were administered to 73 patients for validity analysis.

Re-emergent tremor in Parkinson's disease: Clinical and accelerometric properties.

Re-emergent tremor (RET) and the classical parkinsonian rest tremor were considered as two different phenomena of the same central tremor circuit. However, clinical and accelerometric characteristics of these tremors were not previously compared in a single study. We evaluated disease characteristics and accelerometric measurements of two tremor types in 42 patients with Parkinson's disease.

No Effect of Different Stimulation Conditions on Verbal Fluency and Visuospatial Orientation in Patients with Subthalamic Nucleus Deep Brain Stimulation.

Background: Subthalamic nucleus deep brain stimulation is an effective treatment for the symptomatic treatment of Parkinson's disease. Apart from the obvious motor benefits, some cognitive side effects have been reported, particularly in verbal fluency.

Objectives: Our aim was to evaluate the effects of the stimulation on verbal fluency and visuospatial orientation with changing stimulation conditions in 35 patients with Parkinson's disease.

Sudden onset of oromandibular dystonia after cerebellar stroke.

Background: We present the case of a 65-year-old female with sudden-onset involuntary mouth opening, deviation of the jaw, facial grimacing, and tongue movements that started 6 months prior to her admission.

Case Report: She was diagnosed with oromandibular dystonia. Differential diagnosis of oromandibular dystonia and various etiologies were investigated.

A comparison between stereotactic targeting methods of the subthalamic nucleus in cases with Parkinson's disease.

Background: Several methods are used for targeting of the subthalamic nucleus (STN) for the surgical treatment of Parkinson's disease (PD). The goal of this study is to determine the most suitable morphological method for localizing the STN in order to perform deep brain stimulation (DBS) in the treatment of PD.

Methods: Twelve cases with PD underwent bilateral STN-DBS and followed up for 5 years.

Does treadmill training improve lower-extremity tasks in Parkinson disease? A randomized controlled trial.

Objective: To investigate whether gait training with treadmill improves functional tasks of lower extremities in patients with Parkinson disease (PD).

Design: Randomized controlled trial including two groups, the treadmill training group and the nonintervention group.

Setting: University hospital.