To compare structural alterations in the brains of Meige syndrome (MS) patients with those of healthy controls (HCs) by using surface-based morphometry (SBM) and compare structural differences between the brains of MS patients with sleep disorders and those of MS patients without sleep disorders.

We investigated cortical surface parameters in 42 MS patients and 30 HCs. T1-weighted images were acquired and processed using CAT12 to perform vertexwise between-group comparisons of cortical thickness, gyrification, cortical complexity and sulcus depth with validated quality control protocols. We also performed SBM to analyze data from 19 patients with sleep disorders and 23 patients without sleep disorders.

Compared with HCs, MS patients had differences in large clusters of cortical regions, especially in postcentral, precentral, superior frontal and paracentral thickness. Differences were also observed in the parietal and occipital areas. Among MS patients with and without sleep disorders, altered cortical complexity and sulcal depth were observed.

This study strongly suggested that MS patients have cortical structural abnormalities compared with HCs, thus elucidating the underlying pathophysiology of motor and nonmotor symptoms in MS patients.

Limited evidence exists regarding care pathways for stroke survivors who do and do not receive poststroke spasticity (PSS) treatment.

Administrative data was used to identify adults who experienced a stroke and sought acute care between 2012 and 2017 in Alberta, Canada. Pathways of stroke care within the health care system were determined among those who initiated PSS treatment (PSS treatment group: outpatient pharmacy dispensation of an anti-spastic medication, focal chemo-denervation injection, or a spasticity tertiary clinic visit) and those who did not (non-PSS treatment group). Time from the stroke event until spasticity treatment initiation, and setting where treatment was initiated were reported. Descriptive statistics were performed.

Health care settings within the pathways of stroke care that the PSS (n = 1,079) and non-PSS (n = 22,922) treatment groups encountered were the emergency department (86 and 84%), acute inpatient care (80 and 69%), inpatient rehabilitation (40 and 12%), and long-term care (19 and 13%), respectively. PSS treatment was initiated a median of 291 (interquartile range 625) days after the stroke event, and most often in the community when patients were residing at home (45%), followed by “other” settings (22%), inpatient rehabilitation (18%), long-term care (11%), and acute inpatient care (4%).

To our knowledge, this is the first population based cohort study describing pathways of care among adults with stroke who subsequently did or did not initiate spasticity treatment. Areas for improvement in care may include strategies for earlier identification and treatment of PSS.

The primary objective of this study was to evaluate the feasibility and clinical impact of utilizing low-field portable MRI in a remote setting in Canada.

This was a single-site prospective cohort study. An ultra-low-field (0.064 T) portable MRI was installed in Weeneebayko General Hospital, Moose Factory, Ontario. Adults presenting with any indication for neuroimaging between November 2021 and June 2023 were eligible for study inclusion. Clinical presentation, indication for imaging,and radiology report turnaround time were recorded. Images were evaluated for diagnostic quality, and radiology reports were analyzed to determine the diagnostic utility of ultra-low-field MRI.

An ultra-low-field portable MRI was successfully installed in a remote Canadian location. Fifty patients received a portable MRI scan. Comments on suboptimal image quality were made for 12 (24%) of the portable MRI examinations; however, only 2 (4%) of these were deemed nondiagnostic requiring conventional imaging for further evaluation. Clinically significant pathology was identified in 5 (10%) of the examinations.

This first-of-its-kind study demonstrates the application of ultra-low-field portable MRI in a remote setting in Canada is feasible and offers clinical information that may help triage which patients require transfer to a center with conventional high-field MRI availability.

Diagnosis of acute ischemia typically relies on evidence of ischemic lesions on magnetic resonance imaging (MRI), a limited diagnostic resource. We aimed to determine associations of clinical variables and acute infarcts on MRI in patients with suspected low-risk transient ischemic attack (TIA) and minor stroke and to assess their predictive ability.

We conducted a post-hoc analysis of the Diagnosis of Uncertain-Origin Benign Transient Neurological Symptoms (DOUBT) study, a prospective, multicenter cohort study investigating the frequency of acute infarcts in patients with low-risk neurological symptoms. Primary outcome parameter was defined as diffusion-weighted imaging (DWI)-positive lesions on MRI. Logistic regression analysis was performed to evaluate associations of clinical characteristics with MRI-DWI-positivity. Model performance was evaluated by Harrel’s c-statistic.

In 1028 patients, age (Odds Ratio (OR) 1.03, 95% Confidence Interval (CI) 1.01–1.05), motor (OR 2.18, 95%CI 1.27–3.65) or speech symptoms (OR 2.53, 95%CI 1.28–4.80), and no previous identical event (OR 1.75, 95%CI 1.07–2.99) were positively associated with MRI-DWI-positivity. Female sex (OR 0.47, 95%CI 0.32–0.68), dizziness and gait instability (OR 0.34, 95%CI 0.14–0.69), normal exam (OR 0.55, 95%CI 0.35–0.85) and resolved symptoms (OR 0.49, 95%CI 0.30–0.78) were negatively associated. Symptom duration and any additional symptoms/symptom combinations were not associated. Predictive ability of the model was moderate (c-statistic 0.72, 95%CI 0.69–0.77).

Detailed clinical information is helpful in assessing the risk of ischemia in patients with low-risk neurological events, but a predictive model had only moderate discriminative ability. Patients with clinically suspected low-risk TIA or minor stroke require MRI to confirm the diagnosis of cerebral ischemia.

Language is one of the most celebrated hallmarks of human cognition. With the continuous improvement of medical technology, functional MRI (fMRI) has been used in aphasia. Although many related studies have been carried out, most studies have not extensively focused on brain regions with reduced activation in aphasic patients. The aim of this study was to identify brain regions normally activated in healthy controls but with reduced activation in aphasic patients during fMRI language tasks.

We collected all previous task-state fMRI studies of secondary aphasia. The brain regions showed normal activation in healthy controls and reduced activation in aphasic patients were conducted activation likelihood estimation (ALE) meta-analysis to obtain the brain regions with consistently reduced activation in aphasic patients.

The ALE meta-analysis revealed that the left inferior frontal gyrus, left middle temporal gyrus, left superior temporal gyrus, left fusiform gyrus, left lentiform nucleus and the culmen of the cerebellum were the brain regions with reduced activation in aphasic patients.

These findings from the ALE meta-analysis have significant implications for understanding the language network and the potential for recovery of language functions in individuals with aphasia.

Contrast-induced encephalopathy (CIE) is an adverse event associated with diagnostic and therapeutic endovascular procedures. Decades of animal and human research support a mechanistic role for pathological blood-brain barrier dysfunction (BBBd). Here, we describe an institutional case series and review the literature supporting a mechanistic role for BBBd in CIE.

A literature review was conducted by searching MEDLINE, Web of Science, Embase, CINAHL and Cochrane databases from inception to January 31, 2022. We searched our institutional neurovascular database for cases of CIE following endovascular treatment of cerebrovascular disease during a 6-month period. Informed consent was obtained in all cases.

Review of the literature revealed risk factors for BBBd and CIE, including microvascular disease, pathological neuroinflammation, severe procedural hypertension, iodinated contrast load and altered cerebral blood flow dynamics. In our institutional series, 6 of 52 (11.5%) of patients undergoing therapeutic neuroendovascular procedures developed CIE during the study period. Four patients were treated for ischemic stroke and two patients for recurrent cerebral aneurysms. Mechanical stenting or thrombectomy were utilized in all cases.

In this institutional case series and literature review of animal and human data, we identified numerous shared risk factors for CIE and BBBd, including microvascular disease, increased procedure length, large contrast volumes, severe intraoperative hypertension and use of mechanical devices that may induce iatrogenic endothelial injury.

We investigated the impact of workflow times on the outcomes of patients treated with endovascular thrombectomy (EVT) in the late time window.

Individual patients’ data who underwent EVT in the late time window (onset to imaging >6 hours) were pooled from seven registries and randomized clinical trials. Multiple time intervals were analyzed. Mixed-effects logistic regression was used to estimate the likelihood of functional independence at 90 days (modified Rankin Scale 0–2). Mixed-effects negative binomial regression was used to evaluate the relationship between patient characteristics and workflow time intervals.

608 patients were included. The median age was 70 years (IQR: 58–71), 307 (50.5%) were female, and 310 (53.2%) had wake-up strokes. Successful reperfusion was achieved in 493 (81.2%) patients, and 262 (44.9%) achieved 90-day mRS 0–2. The estimated odds of functional independence decreased by 13% for every 30 minute delay from emergency department (ED) arrival to imaging time and by 7% from ED arrival to the end of EVT in the entire cohort. Also, the estimated odds of functional independence decreased by 33% for every 30 minute delay in the interval from arterial puncture to end of EVT, 16% in the interval from arrival in ED to end of EVT and 6% in the interval from stroke onset to end of EVT among patients who had a wake-up stroke.

Faster workflow from ED arrival to end of EVT is associated with improved functional independence among stroke patients treated in the late window.

Functional MRI (fMRI) has proven valuable in presurgical planning for people with brain tumors. However, it is underutilized for patients with epilepsy, likely due to less data on its added clinical value in this population. We reviewed clinical fMRI referrals at the QEII Health Sciences Center (Halifax, Nova Scotia) to determine the impact of fMRI on surgical planning for patients with epilepsy. We focused on reasons for fMRI referrals, findings and clinical decisions based on fMRI findings, as well as postoperative cognitive outcomes.

We conducted a retrospective chart review of patients who underwent fMRI between June 2015 and March 2021.

Language lateralization represented the primary indication for fMRI (100%), with 7.7% of patients also referred for motor and sensory mapping. Language dominance on the side of resection was observed in 12.8% of patients; in 20.5%, activation was adjacent to the proposed resection site. In 18% of patients, fMRI provided an indication for further invasive testing due to the risk of significant cognitive morbidity (e.g., anterograde amnesia). Further invasive testing was avoided based on fMRI findings in 69.2% of patients. Cognitive outcomes based on combined neuropsychological findings and fMRI-determined language dominance were variable.

fMRI in epilepsy was most often required to identify hemispheric language dominance. Although fMRI-determined language dominance was not directly predictive of cognitive outcomes, it helped identify patients at low risk of catastrophic cognitive morbidity and those at high risk who required additional invasive testing.

Understanding disease-modifying therapy (DMT) use and healthcare resource utilization by different geographical areas among people living with multiple sclerosis (pwMS) may identify care gaps that can be used to inform policies and practice to ensure equitable care.

Administrative data was used to identify pwMS on April 1, 2017 (index date) in Alberta. DMT use and healthcare resource utilization were compared between those who resided in various geographical areas over a 2-year post-index period; simple logistic regression was applied.

Among the cohort (n = 12,338), a higher proportion of pwMS who resided in urban areas (versus rural) received ≥ 1 DMT dispensation (32.3% versus 27.4%), had a neurologist (67.7% versus 63.9%), non-neurologist specialist (88.3% versus 82.9%), ambulatory care visit (87.4% versus 85.3%), and MS tertiary clinic visit (59.2% versus 51.7%), and a lower proportion had an emergency department (ED) visit (46.3% versus 62.4%), and hospitalization (20.4% versus 23.0%). Across the provincial health zones, there were variations in DMT selection, and a higher proportion of pwMS who resided in the Calgary health zone, where care is managed by MS tertiary clinic neurologists, had an outpatient visit to a neurologist or MS tertiary clinic versus those who resided in other zones where delivery of MS-related care is more varied.

Urban/rural inequalities in DMT use and healthcare resource utilization appear to exist among pwMS in Alberta. Findings suggest the exploration of barriers with consequent strategies to increase access to DMTs and provide timely outpatient MS care management, particularly for those pwMS residing in rural areas.

We have updated the migraine prevention guideline of the Canadian Headache Society from 2012, as there are new therapies available, and additionally, we have provided guidelines for the prevention of chronic migraine, which was not addressed in the previous iteration.

We undertook a systematic review to identify new studies since the last guideline. For studies identified, we performed data extraction and subsequent meta-analyses where possible. We composed a summary of the evidence found and undertook a modified Delphi recommendation process. We provide recommendations for treatments identified and additionally expert guidance on the use of the treatments available in important clinical situations.

We identified 61 studies that were included in this evidence update and identified 16 therapies we focused on. The anti-calcitonin gene-related peptide (CGRP) agents were approved by Health Canada between 2018 and 2024 and provide additional options for episodic and chronic migraine prevention. We also summarize evidence for the use of propranolol, topiramate and onabotulinumtoxinA in addition to anti-CGRP agents as treatments for chronic migraine. We have downgraded topiramate to a weak recommendation for use and gabapentin to a weak recommendation against its use in episodic migraine. We have weakly recommended the use of memantine, levetiracetam, enalapril and melatonin in episodic migraine.

Based on the evidence synthesis, we provide updated recommendations for the prevention of episodic and chronic migraine utilizing treatments available in Canada. We additionally provided expert guidance on their use in clinical situations.

Many Royal College of Physicians and Surgeons of Canada (RCPSC) graduates in neurosurgery face significant challenges in finding full-time employment. The current study describes the career outcomes of neurosurgery residents from Canadian programs.

All RCPSC neurosurgery graduates (n = 106) who completed their residency between 2015 and 2020 were included in this study. Baseline characteristics were determined for the entire cohort and then stratified by employment status. Several logistic regression models were used to identify predictors of full-time employment after residency.

Overall, 26.4% of neurosurgery graduates from 2015 to 2020 have been underemployed, defined as locum and clinical associate positions (6.6%), the pursuit of multiple fellowships (16%) and career change/nonsurgical career (3.8%). Only 52.0% of graduates were fully employed in Canada, with 30.2% appointed at academic institutions. Skull-base/open vascular (OR: 0.055, 95%CI [<0.01, 0.74]) and general neurosurgery (OR: 0.027, 95% CI [<0.01, 0.61]) fellowships were associated with underemployment. Advanced research degrees (master’s or Ph.D.) and sex were not associated with full-time employment.

Over one-quarter of recent Canadian neurosurgery graduates were underemployed, and nearly half do not find employment in Canada. These results reflect a concerning reality for current and prospective neurosurgery graduates in Canada and will hopefully serve as a call to action for the Canadian neurosurgery community.

The “weekend effect” is the finding that patients presenting for medical care outside of regular working hours tend to have worse outcomes. There is a paucity of literature in the neuro-oncology space exploring this effect. We investigated the extent of resection and complication rates in patients undergoing after-hours high-grade glioma resection.

A retrospective review was conducted on patients with high-grade glioma requiring emergent surgery between January 1, 2021, and March 31, 2023. After hours was defined as surgical resection on the weekend and/or evening (>50% of surgical time between 1630 and 0659). These patients were matched to patients undergoing resection during regular working hours. Groups were compared on the basis of the extent of resection, postoperative complications and 6-month mortality rate.

A total of 38 patients were included in this study (19 after hours, 19 regular hours). There was no significant difference in age, sex, tumor grade and tumor size between the two groups (all p > 0.05). There was no significant difference in the extent of resection between the groups (p = 0.7442). There was no significant difference in the rate of intraoperative complications, postoperative complications, reoperation and death at 6 months between the groups (all p > 0.05). Estimated blood loss was significantly higher in the regular hours group (p = 0.0278). There was no significant difference in the total operative time (p = 0.0643) and length of stay (p = 0.0601).

After-hours high-grade glioma surgery has similar outcomes to regular-hours surgery for lesions not requiring specialized functional mapping.

Our aim was to explore the experiences of individuals receiving emergency department (ED) care for acute headaches.

Patients with headache exacerbations commonly present to EDs. This study explored the experiences of adult patients during the exacerbation period, specifically using photovoice.

Recruited from two urban EDs in Alberta, Canada, participants with primary headaches took photographs over 3–4 weeks and subsequently completed a 60–90 minute, one-on-one, in-person photo-elicitation interview. Interviews were audio recorded, transcribed and thematically analyzed alongside photographs.

Eight participants (six women) completed the study. The average age was 42 years (standard deviation: 16). Five themes emerged: (1) the struggle for legitimacy in light of the invisibility of their condition; (2) the importance of hope, hopelessness and fear in the day-to-day life of participants; (3) the importance of agency and becoming “your own advocate”; (4) the struggle to be and be seen as themselves despite the encroachment of their headaches; and (5) the realities of “good” and “bad” care in the ED. Participants highlighted examples of good care, specifically when they felt seen and believed. Additionally, some expressed the acute care space itself being a beacon of hope in the midst of their crisis. Others felt dismissed because providers “know it’s not life or death.”

This study highlighted the substantial emotional impact that primary headaches have on the lives of participants, particularly during times of exacerbation and while seeking acute care. This provides insight for acute care settings and practitioners on how to effectively engage with this population.

We aimed to evaluate the effect of yoga on motor and non-motor symptoms and cortical excitability in patients with Parkinson’s disease (PD).

We prospectively evaluated 17 patients with PD at baseline, after one month of conventional care, and after one month of supervised yoga sessions. The motor and non-motor symptoms were evaluated using the Unified Parkinson’s disease Rating Scale (motor part III), Hoehn and Yahr stage, Montreal Cognitive Assessment, Hamilton depression rating scale, Hamilton anxiety rating scale, non-motor symptoms questionnaire and World Health Organization quality of life questionnaire. Transcranial magnetic stimulation was used to record resting motor threshold, central motor conduction time, ipsilateral silent period (iSP), contralateral silent period (cSP), short interval intracortical inhibition (SICI), and intracortical facilitation.

The mean age of the patients was 55.5 ± 10.8 years, with a mean duration of illness of 4.0 ± 2.5 years. The postural stability of the patients significantly improved following yoga (0.59 ± 0.5 to 0.18 ± 0.4, p = 0.039). There was a significant reduction in the cSP from baseline (138.07 ± 27.5 ms) to 4 weeks of yoga therapy (116.94 ± 18.2 ms, p = 0.004). In addition, a significant reduction in SICI was observed after four weeks of yoga therapy (0.22 ± 0.10) to (0.46 ± 0.23), p = 0.004).

Yoga intervention can significantly improve postural stability in patients with PD. A significant reduction of cSP and SICI suggests a reduction in GABAergic neurotransmission following yoga therapy that may underlie the improvement observed in postural stability.

CTRI/2019/02/017564

Spinal CSF leak can cause disabling headaches and neurological symptoms. Lack of awareness, diagnostic delay and treatment inconsistencies affect the quality of CSF leak care globally. This is the first study aiming to identify and assess these challenges in Canada.

A cross-sectional online survey of Canadian patients with spinal CSF leak was designed in collaboration with Spinal CSF Leak Canada, including questions on demographics, headache condition, investigations, treatments, quality of life, financial consequences and out-of-country care.

The survey captured 103 respondents with confirmed spinal CSF leak diagnosis, of whom 56% were still suffering. The majority were female (80%), most being highly educated, with a mean age of 41.8 (SD: 10.37) years at the time of diagnosis. Inconsistencies in care resulted in variable durations for obtaining diagnosis and treatment. The majority of respondents (88%) had seen multiple physicians, and only 50% had seen a CSF leak specialist. Invasive imaging was not performed in 43%. CSF leak relapse after initial successful treatment occurred frequently (43%). The incidence of rebound intracranial hypertension was high (52.5%), and the treatment was difficult to access (77%). Out-of-country care was common (28%), and the impact on financial health was omnipresent (81.5%).

The survey demonstrates significant gaps in spinal CSF leak care in Canada, similar to global observations. Lack of awareness and access, delayed care, and inconsistencies in investigations and management are common. Spinal CSF leak significantly impacts patients’ physical, mental and financial well-being. Increased awareness, referral pathways and standardized treatment algorithms are key factors in optimizing patient care in Canada.

Bilingualism’s impact on cognitive assessment remains underexplored. This study analyzes the efficacy of the Mini-Mental State Examination (MMSE) as a screening tool for bilinguals, specifically examining the influence of language choice on balanced and unbalanced Lebanese bilinguals (Arabic-French) and its implications for diagnosing cognitive impairment.

Ninety-three bilingual healthy controls (mean age = 67.99 ± 9.3) and 29 Alzheimer’s disease patients (mean age = 77.2 ± 5.9), including 26 with mild and 3 with moderate dementia, underwent MMSE assessments in both Arabic and French. The study aimed to assess language impact on cognitive screening outcomes in different bilingual subtypes.

Sensitivity in screening for cognitive impairment using the MMSE varied based on language and bilingualism subtype. For unbalanced bilinguals, using the prominent language increased sensitivity. Conversely, in balanced bilinguals, employing the societal majority language enhanced sensitivity. This suggests that the conventional use of the non-prominent language in cognitive screening for foreigners/immigrants may result in a subtle loss of MMSE sensitivity.

This study emphasizes the critical role of language choice in cognitive assessment for bilinguals. The MMSE’s sensitivity is influenced by language selection, with clinical implications for screening procedures. Recommendations include using the prominent language for cognitive screening in dominant bilinguals and the societal majority language for balanced bilinguals. This nuanced approach aims to improve the accuracy and cultural sensitivity of cognitive screening in bilingual populations, addressing the gap in current assessment practices.

Obstructive sleep apnea (OSA) is associated with worse outcomes in stroke, Alzheimer’s disease (AD) and Parkinson’s disease (PD), but diagnosis is challenging in these groups. We aimed to compare the prevalence of high risk of OSA based on commonly used questionnaires and self-reported OSA diagnosis: 1. within groups with stroke, AD, PD and the general population (GP); 2. Between neurological groups and GP.

Individuals with stroke, PD and AD were identified in the Canadian Longitudinal Study of Aging (CLSA) by survey. STOP, STOP-BAG, STOP-B28 and GOAL screening tools and OSA self-report were compared by the Chi-squared test. Logistic regression was used to compare high risk/self-report of OSA, in neurological conditions vs. GP, adjusted for confounders.

We studied 30,097 participants with mean age of 62.3 years (SD 10.3) (stroke n = 1791; PD n = 175; AD n = 125). In all groups, a positive GOAL was the most prevalent, while positive STOP was least prevalent among questionnaires. Significant variations in high-risk OSA were observed between different questionnaires across all groups. Under 1.5% of individuals self-reported OSA. While all questionnaires suggested a higher prevalence of OSA in stroke than the GP, for PD and AD, there was heterogeneity depending on questionnaire.

The wide range of prevalences of high risk of OSA resulting from commonly used screening tools underscores the importance of validating them in older adults with neurological disorders. OSA was self-reported in disproportionately small numbers across groups, suggesting that OSA is underdiagnosed in older adults or underreported by patients, which is concerning given its increasingly recognized impact on brain health.

Self-guided Internet-based cognitive behavior therapy (iCBT) for migraine interventions could improve access to care, but there is poor evidence of their efficacy.

A three-arm randomized controlled trial compared: iCBT focused on psychoeducation, self-monitoring and skills training (SPHERE), iCBT focused on identifying and managing personal headache triggers (PRISM) and a waitlist control. The primary treatment outcome was a ≥ 50% reduction in monthly headache days at 4 months post-randomization.

428 participants were randomized (mean age = 30.1). 240 participants (56.2%) provided outcome data at 4 months. Intention-to-treat (ITT) analysis with missing data imputed demonstrated that the proportion of responders with a ≥ 50% reduction was similar between combined iCBTs and waitlist (48.5/285, 17% vs. 16.6/143, 11.6%, p = 0.20), but analysis of completers showed both iCBT programs to be superior to the waitlist (24/108, 22.2% vs. 13/113, 11.5%, p = 0.047). ITT analysis with missing data imputed showed no difference between the two iCBTs (SPHERE: 24.8/143, 17.3% vs. PRISM: 23.7/142, 16.7%, p = 0.99). Uptake rates of the iCBTs were high (76.9% and 81.69% logged in at least once into SPHERE and PRISM, respectively), but adherence was low (out of those who logged in at least once, 19.01% [21/110] completed at least 50% modules in SPHERE and 7.76% [9/116] set a goal for trying out a given trigger-specific recommendation in PRISM). Acceptability ratings were intermediate.

Self-guided iCBTs were not found to be superior in our primary ITT analysis. Low adherence could explain the lack of effects as completer analysis showed effects for both interventions. Enhancement of adherence should be a focus of future research.

Although evidence supports the improved safety profile of direct oral anticoagulants (DOACs) over warfarin (WF), outcomes among elderly traumatic brain injury (TBI) patients on this regimen remain unclear. This study describes the association between anticoagulation status (DOAC vs. WF use) and the rates of occurrence of intracranial hemorrhage (ICH), hematoma progression, need for surgical intervention and mortality in elderly TBI cases.

This retrospective cohort study from 2014 to 2019 included all trauma patients > 65 years on either WF or DOACs at the time of injury. The primary outcome was the rate of ICH after TBI. Multivariable regression analysis identified independent predictors of functional dependency and mortality.

A total of 501 elderly TBI patients (mean age = 82 years old) were included. WF users had higher CT Marshall scores (p = 0.007), more severe TBI (GCS < 8) (p = 0.003) and higher rates of subdural hematomas compared to the DOAC group (p = 0.003). Patients on DOACs had lower rates of ICH (42% vs. 57%, p = 0.001) and hospitalization (30% vs. 41%, p = 0.013) and better Glasgow outcome scale-extended scores at hospital discharge (mean 6.98 vs. 6.41, p = 0.005). Multicompartment ICH (OR 2.30, p = 0.027) and longer hospitalization (OR 0.04, p < 0.001) were associated with higher functional dependency rates, while higher CT Marshall scores (OR 1.09, p < 0.001) and poorer baseline frailty status (OR 0.62, p = 0.026) predicted increased mortality risk.

Elderly TBI patients on DOACs have lower rates of ICH, lower need for hospitalization and better functional outcomes at discharge compared to those taking WF. These findings need further confirmation using prospective multicenter studies.

Mucolipidosis type IV (MLIV) is a rare, progressive lysosomal storage disorder characterized by severe intellectual disability, delayed motor milestones and ophthalmologic abnormalities. MLIV is an autosomal recessive disease caused by mutations in the MCOLN1 gene, encoding mucolipin-1 which is responsible for maintaining lysosomal function.

Here, we report a family of four Iranian siblings with cognitive decline, progressive visual and pyramidal disturbances, and abnormal movements manifested by severe oromandibular dystonia and parkinsonism. MRI scans of the brain demonstrated signal abnormalities in the white matter and thinning of the corpus callosum.

Whole-exome sequencing identified a novel homozygous variant, c.362C > T:p. Thr121Met in the MCOLN1 gene consistent with a diagnosis of MLIV. The presentation of MLIV may overlap with a variety of other neurological diseases, and genetic analysis is an important strategy to clarify the diagnosis. This is an important point that clinicians should be familiar with. The novel variant c.362C > T:p. Thr121Met herein described may be related to a comparatively older age at onset. Our study also expands the clinical spectrum of MLIV associated with the MCOLN1 variants and introduces a novel likely pathogenic variant for testing in MLIV cases that remain unresolved.