Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in DNM1. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion leading to a premature stop codon and is predicted to cause a protein truncation. Structural modeling implicated a complete loss of function of the Dynamin 1 (DNM1). Such mutation is predicted to impair the nucleotide binding, dimer formation, and GTPase activity of DNM1. Our study expands the phenotypic spectrum of pathogenic homozygous loss-of-function variants in DNM1.

Objective: Epilepsy is a neurological disorder with profound impacts on various aspects of life. It may lead to significant medical and psychiatric comorbidities, one of which is personality disorders (PDs). This study aims to assess the prevalence of Cluster C PDs among adult patients with epilepsy (PWE) at a tertiary care hospital in Riyadh, Saudi Arabia. Method: This cross-sectional study, conducted between January 2024 and April 2025, enroled 360 adult PWE using convenience sampling. The study tool included the Structured Clinical Interview for DSM Disorders criteria, along with additional demographic and epilepsy-related questions developed by the research team. Results: Cluster C PDs were identified in 30. 6% of the participants. Obsessive-compulsive PD was the most prevalent (17. 8%), followed by avoidant PD (9.7%). No significant gender difference was found in the prevalence of PDs (p > 0.05). Educational level and employment status were significantly associated with PDs (p=0.036 and 0.014, respectively). Participants with PDs had a longer mean epilepsy duration than those without PDs (p < 0.05). Conclusion: Cluster C PDs are prevalent among PWE, with lower educational levels, longer epilepsy duration, and unemployment being significantly associated with a higher prevalence. Screening for PDs among PWE is therefore warranted to enable earlier detection and intervention.

Background: MS begins before age 18 in 3–10% of cases (pediatric-onset MS, POMS). Adult MS epidemiology is increasingly characterized across the Gulf, but whether the pediatric literature is sufficiently mature and ho0m1ogeneous to support a quantitative meta-analysis, as opposed to a scoping review, remains unclear. Objective: To map published POMS evidence across the six Gulf Cooperation Council (GCC) states and identify evidence gaps. Methods: A scoping review followed the Arksey and O’Malley framework, reported per PRISMA-ScR. Eligibility followed a Population-Concept-Context framework: MS onset before 18 years; epidemiological, clinical, diagnostic, therapeutic, and outcome data; the six GCC states. Adult-inclusive studies that did not report a dedicated pediatric-onset subgroup were retained only as contextual evidence and were not counted as meeting the Population criterion (see Methods). MEDLINE/PubMed, Embase, Scopus, Web of Science, and IMEMR were searched from inception through August 2026. Results: Eleven studies were included. Dedicated, pediatric-specific POMS data were identified from three of six countries: Kuwait (three epidemiological/clinical registry studies and two pediatric monoclonal-antibody outcome studies), Saudi Arabia (one national-registry study), and the UAE (two hospital/multicenter cohorts and one pediatric monoclonal-antibody outcome study). Qatar and Oman contributed only adult-inclusive prevalence studies without a dedicated pediatric subgroup, and no eligible study was identified from Bahrain. Incidence ranged from 2.1/100,000 (Kuwait) to a UAE-reported 7.2/100,000 in a 15–19-year age band that extends beyond the review’s < 18-year POMS definition; prevalence (2.7–36/100,000) was highest in the UAE. A relapsing–remitting course, female preponderance, and brainstem/cerebellar or visual presentations predominated; MRI, cognitive, and quality-of-life data were sparse or absent. Three studies reported pediatric natalizumab/ocrelizumab outcomes (Kuwait, UAE). Conclusion: The Gulf POMS evidence base is real but narrow, concentrated, and heterogeneous; a scoping review, which maps the evidence base and treats geographic and domain gaps as findings in their own right, is currently the more informative synthesis than a quantitative meta-analysis. This supports a harmonized, multi-country Gulf pediatric MS registry with standardized outcome reporting, including neurocognitive and quality-of-life measures.

Background: Dietary modification is widely used by people with multiple sclerosis (MS), and gluten avoidance is a common self-directed strategy. Biological plausibility has been proposed through gut-barrier and immune mechanisms, but whether gluten restriction improves clinical outcomes or objective disease activity remains uncertain. Objective: To systematically identify, appraise, and synthesise evidence on gluten-free and gluten-restricted diets in MS, with particular attention to whether observed effects can be attributed specifically to gluten. Methods: The protocol was registered with PROSPERO (CRD420261459657). MEDLINE (via PubMed), Embase, Scopus, the Web of Science Core Collection, and the Cochrane Library were searched from 1 July from the inception of each database to 22 July 2026, supplemented by backward and forward citation searching. Eligible studies enrolled adults with MS and evaluated a gluten-free diet, a clearly defined gluten-restriction component, or habitual gluten exposure. Screening, extraction, and appraisal were performed independently in duplicate. RoB 2, ROBINS-I, and the Newcastle-Ottawa Scale were applied according to design, and certainty was assessed with GRADE. Clinical and methodological heterogeneity precluded meta-analysis; results were synthesised narratively following SWiM guidance. Results: Of 694 records identified, 392 duplicates were removed and 302 records were screened by title and abstract, of which 292 were excluded; ten reports were sought for full-text retrieval and one could not be obtained; nine full texts were assessed, three were excluded (one non-English publication and two ineligible study designs), and six studies were included. Two parallel-group controlled trials were reported as randomised, one was a randomised crossover trial, two were non-randomised interventional studies, and one was observational. Only six studies were eligible, and they were small and clinically and methodologically heterogeneous; no randomised comparison isolated gluten restriction as the sole dietary change. Clinical outcomes (fatigue, quality of life, disability) are reported separately from biological or disease-activity outcomes (relapse, magnetic resonance imaging activity, and biomarkers). Fatigue and quality of life improved most consistently in multi-component dietary trials that did not isolate gluten. Evidence specifically isolating gluten restriction was much weaker, and these results should not be read as showing that a gluten-free diet itself confers clinical benefit. The two studies reporting improved disability used adherence-based, non-randomised comparisons. By contrast, the randomised crossover trial of marked wheat/gluten reduction found no disability benefit and had a negative primary immunological endpoint. This contrast reflects substantial uncertainty and does not support a causal benefit of gluten elimination on disability. Adherence was a recurrent limitation. GRADE certainty was very low for all seven outcome domains, including fatigue and quality of life, and most of the evidence was indirect with respect to gluten elimination. Conclusions: In six small and heterogeneous studies, fatigue and quality of life improved mainly with multi-component dietary interventions; current evidence does not establish that gluten elimination itself confers clinical benefit, is responsible for these improvements, or modifies MS disease activity. Adequately powered randomised trials that isolate gluten elimination, objectively verify adherence, and use clinically meaningful outcomes with longer follow-up are required.

Depression and anxiety are among the most common comorbidities in individuals with Parkinson’s disease (PD). Yet their prevalence and contributing factors in Saudi Arabia are poorly examined. This study aimed to estimate the prevalence of depression and anxiety among patients with PD in Saudi Arabia, along with contributors, demographics, and clinical correlates. A cross-sectional study was conducted in Riyadh, Saudi Arabia, in which 130 patients diagnosed with PD completed the validated Arabic versions of the Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7) to ascertain the presence of depression and anxiety, respectively. Sociodemographic, patient-related factors, and clinical data were also collected and analyzed in conjunction with the aforementioned scales using univariate and multivariable logistic regression. Depression and anxiety were present in 67.7% and 62.3% of participants, respectively. Compared with the age group 41–50 years, the 51–60 and 61–70 groups were less likely to be depressed or anxious ( P  = .013 and P  = .008). Lower education (high school or less) was associated with both depression and anxiety ( P  = .021 and P  = .017). Anxiety (GAD-7) was associated with a history of major depressive disorder ( P  = .003). Longer PD duration was associated with higher odds of both anxiety and depression ( P  ≤ .001). Our study shows a high prevalence of anxiety and depression in patients with PD, particularly among those with longer disease duration and lower educational attainment. Routine neuropsychological screening and early multidisciplinary care are warranted.