Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder linked to specific genetic mutations, including those in the CHMP2B gene, which encodes a component of the ESCRT-III complex involved in endosomal trafficking and autophagy. Here, we report a 62-year-old woman presenting with apathy, hyperorality, and language impairment, harbouring a novel heterozygous c.440A > G CHMP2B variant of uncertain significance, causing D147G substitution. Neuropsychological evaluation revealed severe apathy, whereas MRI and 18FDG-PET were consistent with an early left prefrontal impairment. The D147G substitution is located in proximity to the D148Y mutation, previously associated with semantic variant primary progressive aphasia, suggesting it may similarly disrupt protein conformation or stability. Our findings raise the possibility that this variant may be relevant in the context of an FTD-like phenotype. This case highlights the importance of investigating missense variants to further elucidate the pathogenic mechanisms of ESCRT-III dysfunction in neurodegeneration.

This study aimed to evaluate the potential of Photon-Counting Detector CT Angiography (PCD-CTA) for the post-interventional assessment of intraaneurysmal flow disrupting devices (IAFD). This retrospective analysis evaluates consecutive patients with intracranial aneurysms treated with IAFD between April 2023 and April 2025, who underwent PCD-CTA, MR angiography and DSA as part of their clinical diagnostic work-up routine. Polyenergetic images, iodine and virtual monoenergetic imaging reconstructions with different keV levels (40 and 80) and with different Head vessel kernels (Hv56 and Hv72) were acquired with and without iterative metal artifact reduction. Three independent readers assessed image quality using a 5-point Likert scale and region of interest analysis. The different kernels, keV and the optimized spectral reconstructions were compared in descriptive analysis. A total of 10 patients (mean age 60.41 ± 11.43 (43-74) years; 6 women) with intracranial aneurysms treated with either Contour device (n = 6) or WEB device (n = 4) were included. Reconstructions using Hv56 and a 40keV yielded increased signal and contrast to noise ratios and were preferred for visualizing the parent vessel lumen compared to Hv72 and higher keV levels (p < 0.001). Assessing the different spectral reconstructions virtual monoenergetic reconstructions proved to be best to evaluate the parent vessel lumen (p = 0.040). Spectral reconstructions of PCD-CTA with a smoother reconstruction kernel and a low keV level seem to be beneficial to achieve optimal image quality for the diagnostic evaluation of patients with intracranial IAFD.

Deep Brain Stimulation (DBS) is an established treatment for advanced Parkinson's disease (PD), yet registry-based data from developing countries remain limited. This study reports the establishment and feasibility of the Iranian Deep Brain Stimulation Registry for Parkinson's Disease (IDBSR-PD). We conducted a single-center feasibility study at the Research Center for Neuromodulation and Pain, including all PD patients undergoing DBS implantation since 2014. Primary feasibility outcomes included patient enrollment coverage, follow-up adherence, data completeness, multidisciplinary implementation, and the sustainability of technical infrastructure. Secondary outcomes included descriptive patient characteristics. Only descriptive statistics were performed; no hypothesis testing or longitudinal outcome analyses were conducted. A total of 208 patients were enrolled (65.4% male; mean age 58.4 ± 10.2 years). Enrollment increased progressively over time, peaking in 2024 (n = 41). Patients were referred from multiple provinces across Iran. Data validation mechanisms and regular surveillance ensured acceptable data completeness. The IDBSR-PD demonstrates the feasibility and sustainability of a web-based DBS registry in a developing country. These findings confirm the viability of structured data collection and provide a foundation for future multicenter and longitudinal outcome research.

Vitamin D is widely studied in multiple sclerosis (MS), yet its clinical relevance for disability and relapse activity remains uncertain, particularly in underrepresented populations. To examine whether serum 25-hydroxyvitamin D [25(OH)D] levels are associated with disability or relapse activity in a multicenter cohort of Libyan adults with MS. In a cross-sectional cohort of adults with MS (n = 369), the exposure was 25(OH)D scaled per 10 ng/mL (vitD10). Primary outcomes were the continuous Expanded Disability Status Scale (EDSS) and annualized relapse rate (ARR). We prespecified equivalence margins of ± 0.30 EDSS points and ± 0.25 ARR units, and fitted multivariable models adjusted for demographic, clinical, lifestyle, and treatment-related factors using HC3 robust standard errors. Two one-sided tests (TOST) were used to evaluate equivalence. For continuous EDSS, effect estimates were small and the 90% confidence interval lay within the ± 0.30 margin, supporting equivalence. Results for ARR were similarly within the prespecified ± 0.25 margin.There was little evidence of non-linearity, and sensitivity analyses, including measurement-error correction, did not materially change the findings. An exploratory threshold analysis at EDSS ≥ 4 suggested a small increase in odds (OR 1.47, 95% CI 1.01-2.15), which was not supported by continuous analyses and should be interpreted cautiously. In this cross-sectional study, differences in 25(OH)D were unlikely to correspond to clinically meaningful differences in disability. These findings suggest the absence of clinically meaningful effects on established disability, while not excluding potential roles in inflammatory activity or earlier disease processes. Prospective studies with longitudinal measurements are needed to clarify temporal relationships and effect modification.

Serum biomarkers such as soluble triggering receptor expressed on myeloid cells-2 (sTREM-2) and glial fibrillary acidic protein (GFAP) can indicate astrocyte and microglial activity in Multiple sclerosis (MS) patients. GFAP has been linked to disability progression, but the role of serum sTREM-2 in MS disability remains unclear. To assess the relationship between serum levels of GFAP and sTREM-2, the Expanded Disability Status Scale (EDSS), and clinical characteristics in MS patients. This cross-sectional study involved 120 MS patients who were diagnosed using the updated 2017 McDonald criteria at Sina Hospital in Tehran, Iran. Following the collection of demographic data and EDSS scores, patient blood samples were obtained, and serum levels of GFAP and sTREM-2 were measured using the enzyme-linked immunosorbent assay (ELISA) method. After determining normality, the connection between serum GFAP and sTREM-2 levels and clinical variables was examined using appropriate tests. The squared correlation coefficient was calculated for significant biomarker-EDSS correlations to estimate the percentage of explained/shared variance. The significance level was set at p < 0.05. The mean ± standard deviation (SD) age of participants was 38.72 ± 8.86 years. The majority were female, comprising 79.2% of the sample (95 out of 120). Most patients had relapsing-remitting MS (RRMS, 79.2%). The median EDSS score was 2.50 (IQR 1.0-4.0). The median serum levels of GFAP and sTREM-2 were 1.13 (0.85-1.38) ng/mL and 0.60 (0.39-0.86) ng/mL, respectively. Both GFAP and sTREM-2 showed statistically significant but modest-to-weak positive correlations with EDSS. GFAP was correlated with EDSS (r = 0.279, p = 0.002), corresponding to approximately 7.8% explained/shared variance, while sTREM-2 was correlated with EDSS (r = 0.199, p = 0.030), corresponding to approximately 4.0% explained/shared variance. In multivariable linear regression models adjusting for age, sex, disease duration, MS subtype, DMT efficacy, and relapse rate, both GFAP (p = 0.020) and sTREM-2 (p = 0.035) remained independently associated with EDSS. There was no significant correlation found between age, disease duration, annual relapse rate, MS subtypes, treatment groups, and the biomarkers studied. Our results show statistically significant but modest-to-weak positive correlations between EDSS and serum levels of sTREM-2 and GFAP, suggesting these biomarkers could help evaluate current disability and further our knowledge of MS pathophysiology.

Febrile seizures are classically defined as occurring between six months and five years of age;however, fever-associated seizures may also occur in older children, a group that remains relatively underrecognized. This age group may present with different clinical characteristics and a potentially increased risk ofepilepsy or underlying structural abnormalities. We retrospectively analyzed children older than five years who presented with fever-associated seizuresto the pediatric emergency department between July 2019 and July 2024. Demographic characteristics, seizuresemiology, family history, electroencephalography(EEG) and neuroimaging results, and long-term epilepsyoutcomes were evaluated. Patients with prior epilepsy, neurodevelopmental disorders, or metabolic diseases wereexcluded. One hundred ten children (mean age:7.3 years; 73.6% male) were included. Most patients (80%)experienced simple febrile seizures; however, complex seizures occurred in 20%. EEG abnormalities were presentin 33.3% of those tested (45/110), and neuroimaging revealed structural abnormalities in 2/51 patients. Over amedian follow-up of 18 months, 14 children (12.7%) developed epilepsy, a markedly higher risk being observedin those with complex seizures (40.9% vs. 5.7%) and in children over seven. Febrile seizures occurring beyond the age of five may represent a clinically relevant subgroup.Although many children present with simple features and follow a favorable course, complex seizurecharacteristics and older age may be associated with an increased risk of subsequent epilepsy. Selected patientsmay therefore require careful clinical evaluation and follow-up.

Identification of predictors associated with progression to Secondary progressive multiple sclerosis (SPMS) remains clinically important for optimizing long-term disease management. We aimed to evaluate demographic, clinical, and disease-modifying therapy (DMT)-related factors associated with progression to SPMS in a real-world cohort of patients with MS. In this retrospective cohort study, 650 MS patients diagnosed between 2013 and 2019 were enrolled and followed until 2024. Demographic characteristics, clinical variables and DMT history were compared between patients with benign MS and those who progressed to SPMS. Multivariate Cox regression analysis was performed to identify independent predictors of progression to SPMS. About 12.3% of patients developed SPMS. Male sex (p ≤ 0.001), Current age (p ≤ 0.001), longer disease duration (p ≤ 0.001), higher baseline and current Expanded Disability Status Scale (EDSS) (p ≤ 0.001), increased relapse frequency and hospitalization (p ≤ 0.001), diagnostic delay (p = 0.012), polysymptomatic onset (p = 0.05), and DMT switching (p ≤ 0.001) were significantly associated with SPMS conversion. In multivariate analysis, diagnostic delay [HR 1.14 (95% CI 1.07-1.20), p < 0.001], baseline EDSS [HR 1.22 (95% CI 1.07-1.40), p = 0.003], and current EDSS [HR 1.94 (95% CI 1.74-2.16), p < 0.001] independently predicted the risk of progression to SPMS. Progression to SPMS was associated with several demographic and clinical factors, particularly delayed diagnosis and higher disability burden. Early diagnosis and prompt initiation of effective treatment strategies may play a critical role in reducing long-term disability progression in MS patients.