Rezzak Yilmaz

Background: Identification of individuals at increased risk for synucleinopathies is becoming more feasible with advances in biomarkers. However, the ethical and practical aspects of communicating disease risk remain unresolved, particularly across diagnostic groups and cultural contexts. Objectives: We aimed to evaluate attitudes toward disclosure of future synucleinopathy risk among individuals with isolated/idiopathic REM sleep behavior disorder (iRBD), as well as in individuals who developed Parkinson's disease (PD), or multiple system atrophy (MSA), in a large non‐Western registry. Methods: This nationwide survey study included participants from 28 movement disorders and sleep centers across Türkiye. Questionnaires assessing attitudes toward risk disclosure, additional testing, and clinical trial participation were administered face‐to‐face. Responses were analyzed using contingency tables and regression models. Results are reported following the Consensus‐Based Checklist for Reporting of Survey Studies (CROSS) guideline. Results: Among 1385 participants (1039 PD, 107 MSA, 239 iRBD), individuals with iRBD showed the highest support for risk disclosure (88.3%), exceeding PD (64.4%) and MSA (51.9%). Approval declined modestly (3–8%) when framed within the absence of disease‐modifying treatment. iRBD participants were more willing for additional testing but less willing to join clinical trials (31.8%) than PD (45.3%) or MSA (48%). MSA patients expressed the greatest concern about psychological impact. Male sex had more favorable views on disclosure and trial participation, while younger and better‐educated participants favored additional testing. Conclusions: Attitudes toward risk disclosure differ markedly across the synucleinopathy spectrum and demographic characteristics. Culturally informed and diagnosis‐specific disclosure strategies will be essential for trial recruitment and patient‐centered care.

Background: Occupational pesticide (OcP) exposure and pathogenic GBA1 variants are established risk factors for Parkinson's disease (PD). However, whether they interact to influence disease onset or severity remains uncertain. Objective: To determine the prevalence of OcP exposure and other lifestyle risks in relation to GBA1 status and their interactions on age of onset (AOO) and clinical scores in a well-characterized PD cohort. Methods: We analyzed 505 people with PD (PwP) enrolled in the Ankara Parkinson's Disease Registry (ANPAR). GBA1 variants were identified using next-generation sequencing; benign or uncertain variants were excluded. Structured, face-to-face interviews collected data on history of OcP exposure, history of head trauma, smoking, coffee and tea consumption habits. PwP with and without GBA1 variants were compared using unadjusted and adjusted tests. General linear models assessed gene—environment interactions on AOO, non-motor, and motor scores. Results: Fifty-two PwP (10.3%) carried pathogenic GBA1 variants. OcP exposure was more common in carriers than non-carriers (36% vs. 22%; adjusted OR 1.98, 95%CI: 1.07–3.67, p = 0.031). No other risk factor differed between groups. Smoking independently delayed AOO, but there were no significant GBA1 × risk/lifestyle factor interactions for AOO or for motor/non-motor scores. Head trauma, coffee, tea, and OcP exposure showed neither main nor interaction effects on severity indices. Conclusion: OcP exposure is reported more often by individuals carrying pathogenic GBA1 variants, supporting a gene—environment “dual-hit” model. However, OcPs did not modify AOO or disease severity once PD was manifest.

Background: The GBA1 gene has been established as a notable risk factor in Parkinson's disease (PD). While some population-specific variants were reported, many regions of the world remain underexplored. This study investigates the prevalence, types, and clinical associations of GBA1 variants in a large cohort of patients with PD (PwP) from Turkey. Methods: A total of 716 individuals, including 513 PwP and 203 healthy controls (HC), were evaluated. Genetic analysis of GBA1 variants was performed using nextgeneration sequencing. Additionally, whole exome sequencing (WES) was conducted on participants with detected GBA1 variants. Clinical data, including motor, non-motor, and quality of life assessments, were collected. Enzyme and substrate levels were measured from dry blood spot samples. Results: GBA1 variants were found in 13.2% of PD patients, significantly higher than in HC (6.4%), corresponding to an average 2.2-fold higher prevalence. The most frequent variants were p.T369M, p.L444P, and p.N370S. Additionally, 15 variants not previously reported in PD were detected. Patients with pathogenic variants had an earlier age of onset including a higher levodopa-equivalent daily dose and motor complications. Enzyme and substrate levels did not differ significantly between the groups. In one patient, WES data showed a CTSB variant which was reported to modify the effects of GBA1. Conclusion: This is the largest study revealing prevalence of GBA1 variants among PwP in Turkey, with significant clinical implications. The findings enrich the literature by expanding the previously unknown landscape of GBA1 variants in this region.

Background: Understanding real‐world experiences is crucial in determining the potential gaps in patient‐centered healthcare in dystonia. We explored the challenges of people with dystonia (PwD) at the stages of diagnosis and botulinum neurotoxin (BoNT) treatment.Methods: A multicenter survey was conducted face‐to‐face across seven university hospitals in Turkey. PwD receiving BoNT treatment for at least 6 months were invited. Data on demographics, diagnostic journeys, and treatment experiences were collected and analyzed using descriptive statistics and regression models.Results: A total of 789 PwD participated, reporting significant burdens during both diagnostic and treatment stages. Diagnosis was delayed by approximately 1 year, with 15% receiving incorrect initial diagnoses. Additionally, 30.7% of PwD traveled to another city, and 42.6% applied to private clinics for diagnosis, leading to a substantial logistic and financial burden. The treatment stage revealed that a quarter of PwD had to travel significant distances every 3 months, or applied to a private clinic to receive BoNT injections, creating considerable cost and effort. In addition, PwD with oromandibular dystonia were three times and task‐specific dystonia were around nine times less likely to be satisfied with BoNT treatment compared to facial dystonia. Alternative treatment was reported in 11%, with no substantial benefit.Conclusions: The findings highlight critical unmet needs in the diagnostic and treatment processes for PwD. These include improvement in diagnostic accuracy, reduced travel and financial burdens, and enhanced treatment satisfaction. An action plan emphasizing resource utilization policies and educational activities for healthcare providers is essential to address these challenges.

Objectives: This study aimed to investigate the relationship between patients’ awareness of their cognitive symptoms and the presence of cognitive involvement according to neuropsychological tests. Patients and methods: In this cross-sectional study, 539 patients (276 males, 263 females; mean age: 64.3±11.0 years; range, 19 to 88 years) were assessed between September 2020 and June 2023. The Mini-Mental Status Examination (MMSE) scores were recorded in addition to age, sex, education level, and chronic diseases. Patients were classified as having cognitive disorders if their MMSE scores were Results: No relationship was detected between the frequency of cognitive disorders according to the MMSE scores and the frequency of cognitive involvement according to the corresponding question in the nonmotor component of the MDS-UPDRS (pConclusion: The findings indicate that the cognitive impairment inquiry in the nonmotor section of the MDS-UPDRS is not an effective method for detecting cognitive involvement in Parkinson’s disease.

Central nervous system (CNS) involvement in chronic lymphocytic leukemia (CLL) is unfamiliar. The diagnosis is delayed commonly, because of underdiagnosis or subclinical symptoms. We describe a 80-year-old woman with a previous diagnosis of CLL who presented to the emergency service with tonic clonic seizure. The new therapies, eg, ibrutinib and venetoclax, can be effective treatment strategies for CLL with CNS involvement. In our case, treatment with ibrutinib led to a resolution of the cerebralspinal fluid (CSF) neoplastic infiltration, but the patient died afterwards.

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. Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement, a literature search of the PubMed/Medline electronic database was performed covering the last 26 years. Articles on self-perceived stigma in PD with a sample size > 20 and quantitative results were included. Data were extracted by independent reviewers. Results: After screening 163 articles, 57 were eligible for review, most of which were from Europe or Asia. Only two studies have been conducted in South America. No study from Africa was found. Among the 61 factors associated with stigma, disease duration, sex, and age were most frequently studied. A comparison of the investigated factors across the world showed that, while the effect of motor impairment or treatment on stigma seems to be culture-free, the impact of sex, education, marriage, employment, cognitive impairment, and anxiety on stigma may depend on culture. Conclusion: The majority of the world’s PD population is underrepresented or unrepresented, and culture may influence the perception of stigma in PwP. More diverse data are urgently needed to understand and relieve the challenges of PwP within their society.