BACKGROUND AND OBJECTIVES:Dementia is a debilitating neurological disorder and a major public health priority. Age is the strongest known non-modifiable risk factor for dementia, followed by sex. The objective of this study was to examine sex-specific prevalence and the effects of risk factors associated with cognitive impairment. METHODS:Data from Wave 1 of the nationally representative Harmonized Diagnostic Assessment of Dementia for the Longitudinal Aging Study in India (2017-2019; n = 4,096) were used for this analysis. Neurocognitive disorder (NCD) was classified according to Diagnostic and Statistical Manual of Mental Disorders, Fifth Editioncriteria, with participants categorized as cognitively normal, mild NCD, or major NCD. In the multinomial logistic regression analysis, two separate models were implemented: an age-adjusted model and a fully adjusted model that incorporated all variables found to be statistically significant in the first model, in addition to age. RESULTS:Of the 4,096 participants, 46.1% were male and 53.9% were female. The distribution of mild or major NCD diagnoses did not differ significantly by sex ( P = 0.077). In the multiple risk factor model, among men, only anxiety remained significantly associated with mild NCD [odds ratio (OR), 3.30; 95% confidence interval (CI), 1.25-8.74; P = 0.016], whereas among women, being underweight was independently associated with mild NCD (OR, 2.93; 95% CI, 1.13-7.58; P = 0.027). CONCLUSIONS:These findings suggest that the determinants of late-life cognitive impairment are sex-dependent and multifactorial, with psychological factors appearing more salient in men, whereas nutritional vulnerability may be more relevant in women. Interventions aimed at reducing cognitive decline may therefore need to be sex-specific.
BACKGROUND AND OBJECTIVES:Brachial plexopathies (BPs) are disabling peripheral nerve disorders resulting in significant motor and sensory deficits. Traumatic BP is the most common etiology, typically following high-energy injuries, while non-traumatic causes include inflammatory and other etiologies. Although imaging provides anatomical detail, electrodiagnostic studies-nerve conduction study (NCS) and needle electromyography (EMG)-remain central to functional assessment. METHODS:We conducted a retrospective observational study of patients evaluated for BP at a tertiary electrophysiology laboratory between 2017 and 2022. Patients with symptom duration ≥1 month and complete NCS and EMG datasets were included. These datasets were analyzed to determine lesion localization, including trunks, cords, anterior primary rami (APR), and preganglionic involvement. Electrophysiological patterns were compared between traumatic and non-traumatic etiologies. RESULTS:Seventy-eight patients were included (69 males; mean age 31.7 years); 70 (89.7%) had traumatic and 8 (10.3%) had non-traumatic BPs. Pan-plexopathy was the most frequent localization (73.1%), followed by upper trunk involvement. EMG was abnormal in all patients and provided incremental diagnostic yield beyond NCS alone, identifying plexus involvement in 2.6% of patients with normal NCS and detecting APR or preganglionic involvement in an additional 6-9%. Preganglionic and root avulsion patterns were observed exclusively in traumatic cases (8.9%). Apart from proximal lesions in the form of APR and root involvement exclusivity in traumatic BP, electrophysiological patterns overlapped substantially between etiologies. CONCLUSIONS:Pan-plexopathy and upper trunk involvement predominate in BPs. EMG provides critical information beyond NCS alone, particularly for identifying proximal and preganglionic lesions, and remains indispensable for accurate localization.
BACKGROUND AND OBJECTIVES:Dementia and mild cognitive impairment represent a growing neurological burden in Saudi Arabia, driven by population aging and a high concentration of modifiable risk factors. Most affected individuals remain undiagnosed, yet no national analysis of cognitive screening coverage, diagnostic yield, or equity gaps has been conducted within the primary healthcare system. To quantify cognitive impairment screening coverage among adults aged ≥60 years, characterize diagnostic yield and tool utilization patterns, identify equity gaps, and assess alignment with the World Health Organization (WHO) Global Action Plan on Dementia 2017-2025 targets. METHODS:This descriptive study used a serial (repeated) cross-sectional design with trend analysis, analyzing annual secondary surveillance and survey data from 2016 to 2023 drawn from the WHO Global Dementia Observatory, Saudi Ministry of Health Annual Statistical Yearbooks, the Saudi Health Interview Survey 2018, and a regional dementia prevalence study. Descriptive statistics characterized screening and diagnostic patterns over time; regional and urban-rural comparisons were assessed cross-sectionally at single time points (2023 and 2018). RESULTS:National cognitive screening coverage increased from 8.3% in 2016 to 21.7% in 2023. The Mini-Mental State Examination was the most utilized instrument (62.4% of screening encounters), followed by the Montreal Cognitive Assessment (28.1%). Among screened individuals, 34.2% received a new clinically confirmed diagnosis of mild cognitive impairment or dementia, and 71.3% of these new diagnoses had no prior documented cognitive concern. Screening coverage ranged from 31.4% (Central region) to 9.2% (border regions) and was roughly twice as high in urban areas (26.8%) as in rural areas (13.1%). The dementia diagnosis documentation rate-the indicator most directly aligned with the WHO Global Action Plan's Target 4 for dementia diagnosis-improved from 18.4% in 2016 to 41.6-64.6% of estimated prevalent cases in 2023. CONCLUSIONS:Cognitive impairment screening coverage in Saudi Arabia's primary healthcare system remains critically low, and this shortfall in case-finding capacity is the most likely driver of continued underdiagnosis. Whether the WHO Global Action Plan's dementia diagnosis target has been met remains uncertain given the wide prevalence-estimate range, underscoring the need for better prevalence data alongside systematic screening integration, standardized tool adoption, and equity-focused outreach.
ABSTRACT:We present the case of a child with myoclonus-dystonia (MD) who was mistaken for having stuttering and responded to oral zonisamide therapy. An 11-year-old boy presented with a 3-month history of speech-induced myoclonus, dystonia, and speech disfluency, with a positive family history in his father. A final diagnosis of MD was made, and the child responded to zonisamide. MD is a treatable form of neurogenic stuttering. It may mimic stuttering, and detailed analysis of the phenomenology and the evaluation of family history may help establish the diagnosis. A trial of zonisamide may be considered in the treatment of this disabling condition.
Sudden unexpected death in epilepsy (SUDEP) represents a major cause of mortality in individuals with epilepsy, accounting for 8-17% of epilepsy-related deaths. Its multifactorial pathogenesis implicates autonomic dysfunction, impaired heart rate variability, seizure-related arrhythmias, genetic channelopathies, and the potential influence of antiepileptic drugs. Epidemiological studies demonstrate increased SUDEP risk in patients with refractory epilepsy, poor seizure control, and polytherapy, with additional contributions from genetic predisposition and sleep-related seizures. Cardiac abnormalities, including ictal tachyarrhythmias, bradyarrhythmias, and altered QT dynamics, may provide the electrophysiological substrate for lethal events. This review synthesizes current understanding of epidemiology, neuro-cardio-respiratory mechanisms, and cardiovascular contributions to SUDEP, highlighting the role of autonomic and genetic factors, as well as peri-ictal cardiac disturbances. The Mortality in Epilepsy Monitoring Unit Study has provided central insights into the cardiorespiratory cascade leading to SUDEP, while emerging risk-stratification tools such as the SUDEP-7 and SUDEP-3 inventories offer promise for clinical risk assessment. Molecular autopsy approaches identifying channelopathies in DEPDC5 , SCN1A , and cardiac ion channel genes may inform family screening and personalized prevention strategies. Preventive strategies remain limited, although closer collaboration between neurology and cardiology, improved seizure control, adherence to antiepileptic regimens, and consideration of cardiac monitoring or device therapy may help reduce risk. Future research should focus on large-scale prospective studies incorporating implantable monitoring and systematic molecular autopsies to clarify mechanisms and guide individualized preventive strategies tailored to resource settings.
ABSTRACT:Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous syndrome that affects 1 in 2,500-3,000 births. The phenotypic hallmarks include Lisch nodules, optic nerve gliomas, café-au-lait spots, axillary freckling, and benign neurofibromas. NF1 patients carry an 8-13% lifetime risk of malignant peripheral nerve sheath tumors, the leading cause of NF1 mortality. Current genetic testing detects NF1 variants in 95-97% of cases. In this prospective cohort of 103 cases, we used targeted NF1 sequencing by next-generation sequencing, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing to identify causative variants. Pathogenic or likely pathogenic variants were identified by in-house targeted testing in 93% of cases; six cases had large deletions detected by MLPA, and two had variants identified by whole-genome sequencing. This is the largest genetically confirmed Indian NF1 cohort reported, expanding the known mutational spectrum and demonstrating the utility of whole-genome sequencing for unresolved cases (~2%), as well as highlighting the clinical and genetic heterogeneity of NF1.
Abstract Sarcoidosis is a multisystem granulomatous disorder that often mimics inflammatory, demyelinating, or neoplastic neuro-ophthalmic conditions. We describe a 39-year-old woman with two episodes of progressive visual loss in the right eye over 6 months, with partial responsiveness to steroid. Examination revealed optic disc edema and mild proptosis. Extensive evaluation for demyelinating, autoimmune, infectious, and neoplastic causes was unremarkable. A diagnosis of optic nerve sheath meningioma was initially made at a peripheral center based on the presence of a “tram-track” appearance along the optic nerve sheath on imaging. However, associated orbital fat stranding, lacrimal gland enlargement, and pachymeningeal enhancement prompted further systemic evaluation, which revealed mediastinal lymphadenopathy and omental deposits. Biopsy demonstrated noncaseating granulomas with Schaumann bodies, confirming sarcoidosis after exclusion of alternative granulomatous disorders, including tuberculosis. The patient was treated with immunosuppressive therapy. This case highlights that atypical features, responsiveness to steroid, and extraneural imaging findings should prompt systemic evaluation to enable timely diagnosis and appropriate immunosuppressive therapy.
Subthalamic nucleus deep brain stimulation (STN-DBS) is an effective intervention for managing Parkinson's disease (PD) refractory to optimal medical therapy. However, conventional clinical scales often overlook subjective outcomes perceived by patients and caregivers. This study aimed to assess these perceptions using a structured questionnaire featuring 18 items evaluating motor and non-motor outcomes, rated on a visual analog scale (VAS, 0-100), where 0 = no perceived change and 100 = maximum perceived magnitude of change compared to the pre-DBS state. Participants were asked to indicate separately whether the reported change represented improvement or deterioration for directional clarity of the VAS score. This retrospective, cross-sectional pilot study evaluated long-term outcomes following DBS at variable postoperative intervals, with an inherent risk of recall bias. Thirty-one patients with idiopathic PD who had undergone STN-DBS at least one year earlier were interviewed along with their primary caregivers. Treating neurologists also provided independent assessments. While 67.7% of patients reported initial motor improvement, 45.2% retained an overall improvement in clinical course over time. Significant improvements were observed in OFF-phase duration and daily functioning in 77.4% and 61.3% of patients, respectively. Caregivers reported perceived declines in cognition, psychiatric symptoms, and speech clarity in 58.1%, 54.8%, and 71% of participants, respectively. A significant observable difference was noted between neurologist-rated global improvement (90.3%) and caregiver-reported outcomes (67.7%). These findings highlight that integrating patient and caregiver perspectives may enhance comprehensive post-DBS care.
Status dystonicus (SD), also called dystonic storm or dystonic crisis historically, represents a rare and life-threatening exacerbation of dystonia characterized by continuous (tonic) or phasic rapidly recurring dystonic spasms. Common triggers include infections, abrupt changes in medication, and metabolic stress, among others, and necessitate early recognition with multidisciplinary management to prevent multisystemic failure or dysfunction. SD arises in patients with generalized dystonia, more commonly in those with secondary causes, and is associated with basal ganglia dysfunction and predominantly dopaminergic disturbances. The Dystonia Severity Action Plan is a widely accepted staging tool that requires bedside assessment and helps inform therapeutic decisions and intervention levels. Management principles center on identifying and removing triggers, optimizing sedation and airway management, and administering disease-specific therapies. The review aims to provide an overview of the clinical spectrum, the physiological basis, commonly described precipitating factors, and updated management strategies for SD, highlighting a practical approach to the early identification of the syndrome and the bundling of care. A narrative review of peer-reviewed literature from PubMed and Scopus databases was conducted, with emphasis on publications covering etiopathogenesis, risk factors, clinical grading systems, therapeutic options, and outcomes. Key consensus guidelines and case series were appraised. It is evident that early diagnosis and triage, with adequate management, are key to improving survival and neurological outcomes in SD. Adoption of standardized clinical pathways and multicenter data reports will help improve understanding of SD’s natural history, clinical evaluation, and therapeutic efficacy across different etiologies.
We present a rare case of striatal encephalitis associated with small cell lung cancer (SCLC), manifesting as a choreiform movement disorder. A 57-year-old woman presented with a subacute onset of involuntary movements. Despite extensive investigations, the etiology of this choreiform movement disorder remained elusive until a detailed evaluation of clinical signs and radiological findings revealed SCLC. In addition, she had an asymptomatic metastatic brain parenchymal lesion. This case highlights the importance of considering paraneoplastic striatal encephalitis (PSE), a rare presenting neurological syndrome.
BACKGROUND AND OBJECTIVES:Managing chronic headache in older adults is complicated by multimorbidity and polypharmacy. This study evaluated 6-month clinical outcomes, tolerability, and response predictors following ultrasound-guided greater occipital nerve pulsed radiofrequency (GONPRF) in patients aged ≥65 years. METHODS:This retrospective cohort study analyzed 152 patients undergoing ultrasound-guided GONPRF following a positive diagnostic block (≥50% relief). Pain intensity (numeric rating scale, NRS), headache frequency, attack duration (hours), and analgesic use (days/month) were assessed at baseline and 1, 3, and 6 months. The primary endpoint was therapeutic success, defined as a global perceived effect score ≥6 at 6 months. Predictors of response were analyzed via logistic regression. Adverse events were assessed through clinical records and patient interviews. RESULTS:Significant improvements occurred in NRS, headache frequency, attack duration, and analgesic use at all follow-up points ( P < 0.001). Therapeutic success was achieved by 56.6%, 52.6%, and 49.3% of patients at 1, 3, and 6 months, respectively. Outcomes were comparable between proximal and distal techniques. Higher baseline analgesic use was the sole independent predictor of a lower likelihood of treatment success ( P = 0.038, OR = 0.95). Adverse events (18.4%) were mild and resolved within 48 hours. CONCLUSIONS:Ultrasound-guided GONPRF was associated with significant improvements and was well-tolerated in this geriatric cohort. However, due to the retrospective design, lack of a control group, and potential selection bias, the findings should be interpreted cautiously.
