OBJECTIVE:Cerebral microbleeds (CMBs) and cortical superficial siderosis (cSS) are increasingly recognized in patients with cognitive impairment and are considered markers of cerebral small vessel disease and cerebral amyloid angiopathy (CAA). However, their associated variable and cognitive impact remain under-characterized in memory clinic populations. METHODS:We retrospectively reviewed 2923 patients referred for cognitive complaints who underwent brain MRI at the University Health Network (Toronto, 2014-2022). Of these, 137 patients with CMBs and/or cSS were compared with 278 control patients without hemorrhagic findings, sampled at an approximately 2:1 ratio from the CMB/cSS-negative pool. We analyzed vascular-associated variable, Fazekas-rated white matter hyperintensities (WMH), lesion location and cognitive performance (Mini-Mental State Examination or Montreal Cognitive Assessment). Probable CAA was classified using Boston Criteria v2.0. RESULTS:CMBs and/or cSS were present in 4.7% of the cohort. Of the 137 cases, 103 had CMBs only, 9 had cSS only and 25 had both. Thirty-one patients (22.6%) met criteria for probable CAA. The CMB/cSS group was older, had higher rates of hypertension and had greater WMH burden. Cognitive scores were lower in the CMB/cSS group, but in multivariable models, only lower education remained a significant predictor. WMH severity showed a stronger association with cognitive performance than the presence or topography of CMBs or cSS. CONCLUSION:CMBs and cSS co-occur with vascular-associated variables and WMH burden, while their independent association with cognition is modest in cross-sectional analyses. The proportion meeting probable CAA supports diagnostic relevance. Considering hemorrhagic markers alongside WMH may better characterize vascular contributions to dementia in routine clinical assessment.
INTRODUCTION:Lennox-Gastaut syndrome (LGS) is characterized by drug-resistant seizures, cognitive impairment, and significant comorbidities, requiring lifelong care. Despite therapeutic advances, real-world management and system-level barriers in Canada are not well defined. A national survey was conducted to examine Canadian practices in LGS diagnostic approaches, therapies, comorbidity management, counseling practices, and transition services, aiming to identify gaps and guide quality improvement initiatives. METHODS:Following a literature review, a 41-item web-based survey was developed and distributed to neurologists and allied health workers via the Canadian League Against Epilepsy and the Canadian Neurological Sciences Federation. RESULTS:Among 111 respondents (77% physicians; 79% academic practice), diagnostic confidence was limited: 46% believed LGS is both over- and underdiagnosed, and only 5% felt most patients are accurately identified. Adult diagnosis was considered particularly challenging (46%). Genetic testing for unknown etiologies was routine for 67% and, however, was more common among pediatric than adult neurologists (81% vs 41%, p < 0.001). Valproic acid (98%), clobazam (82%), and lamotrigine (75%) were the most common first-line anti-seizure medications (ASMs), yet 67% rated available treatments as inadequate. Reported treatment barriers included limited ASM efficacy (68%), adverse effects (38%), and comorbidity management challenges (37%). Corpus callosotomy was perceived as underutilized (71% overall), suggesting access disparities. Time and resource limitations hindered comorbidity screening. Only 23% reported access to formal transition programs. CONCLUSIONS:Significant gaps remain in the diagnosis and management of LGS in Canada, particularly in treatment, comorbidity screening, and transition care. National guidelines, standardized pathways, and improved access to multidisciplinary services are needed to enhance outcomes.
BACKGROUND:Portable ultra-low field MRI (ULF-MRI) has garnered significant attention in neuroimaging due to the high costs and accessibility issues associated with conventional high-field MRI (HF-MRI). This systematic review aims to explore the cost implications, safety issues and diagnostic capacity of ULF-MRI compared to HF-MRI in brain imaging while also examining its feasibility, limitations and challenges. METHOD:This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. A comprehensive search was conducted across four databases: Medline, Embase, Scopus and the Global Health database. Additionally, the reference lists of studies identified through the database searches were examined. Studies were included if they involved brain imaging with ULF-MRI, used HF-MRI as a comparator and reported on costs, diagnostic accuracy, safety and/or feasibility. RESULTS:ULF-MRI has shown feasibility and applicability in diverse settings, including emergency departments, intensive care units and remote healthcare centres. Diagnostic capabilities have demonstrated good concordance with HF-MRI for various conditions, such as stroke (90% accuracy for ischaemic infarcts), multiple sclerosis (94% detection of lesions) and intracerebral haemorrhage (80.4-92.1% sensitivity). Challenges of ULF-MRI include a reduced signal-to-noise ratio and lower resolution, which can affect image quality and the detection of subtle lesions. CONCLUSION:While ULF-MRI has shown promising diagnostic accuracy for various neurological conditions, its lower image resolution limits the detection of subtle lesions, and it cannot yet replace HF-MRI. Continued technical advancements and further research are needed to improve image quality and promote broader clinical adoption.
BACKGROUND:Parkinson's disease (PD) is characterized by motor and non-motor symptoms (NMS) due to alpha-synuclein aggregation in the central and peripheral nervous system. There is limited data on the temporal evolution of NMS in patients with long-standing PD. OBJECTIVE:To elucidate the chronology of the evolution of NMS in patients with long-standing PD. METHODS:This single-centre cross-sectional study was conducted at a tertiary care centre from May 2023 to December 2024. Patients with clinically diagnosed idiopathic PD of at least 10 years" duration were recruited, and the chronology of the evolution of NMS was characterized. RESULTS:One hundred patients with PD (68% male) were recruited, with a mean age at assessment of 58.8 ± 9.7 years, an age at onset of 45.7 ± 10.1 years and a disease duration of 13.2 ± 3.3 years. Six percent of the patients did not develop any NMS despite the long duration of the illness. Rapid eye movement sleep behavioural disorder (RBD) (63%) was the most frequent NMS, followed by constipation (59%) and urinary dysfunction (55%). Pre-motor onset of NMS was present in 24% of the patients, with RBD (8%) and constipation (8%) being the most frequent. Post-motor onset was observed in 70% of cases. Based on the pre- or post-motor onset of RBD, patients were classified into two subtypes: body-first (8%) and brain-first (84%) PD subtypes. CONCLUSION:This study highlights the distinct trajectories of NMS evolution in PD. While the majority developed at least one NMS, the occurrence of pre-motor NMS was present in about one-fourth. The body-first subtype, characterized by pre-motor RBD, was distinctly uncommon.
BACKGROUND:Chorea-acanthocytosis (ChA) clinically presents with motor and non-motor symptoms. Some features of the disease and their intercorrelations have remained insufficiently characterized. Thus, we aimed to perform a multidimensional assessment of ChA patients, focusing on motor, behavioral, cognitive and olfactory domains. METHODS:A cross-sectional clinical assessment of 23 genetically confirmed ChA patients was conducted from 2022 to 2024. Patients were evaluated using the Unified Huntington's Disease Rating Scale (UHDRS) and Mini-Mental State Examination. A case-control comparison of olfactory function was also performed between eligible patients (n = 20) and age-and gender-matched controls (n = 20) using the Sniffin' Sticks test. RESULTS:The mean age and disease duration were 38.57 ± 7.26 years and 7.86 ± 6.04 years, respectively. Chorea (91.3%), dystonia (82.6%) and oculomotor abnormalities (78.3%), particularly impaired vertical saccades and smooth pursuit, were frequent. All patients exhibited at least one behavioral disorder, most commonly anxiety, mood disorders (including sad mood and low self-esteem) and obsessive-compulsive features. Suicidal thoughts were found in 21.7% of the patients. Among patients with preserved cognition, 50% demonstrated hyposmia (sum of odor identification, discrimination and threshold scores [TDI] < 30.75), with significantly reduced odor discrimination, identification and TDI scores versus controls. Disease duration was negatively associated with olfactory function. Higher UHDRS motor scores were associated with poorer olfactory, cognitive and functional outcomes. CONCLUSION:These findings demonstrated the varied manifestations of ChA, identifying olfactory impairment as a prevalent, underrecognized non-motor symptom, with potential implications for clinical evaluation and management. Further multicenter studies with larger cohorts are required to confirm these observations and clarify their prognostic value.
INTRODUCTION:Involvement of non-ocular motor cranial nerves, such as the trigeminal, facial or hypoglossal nerves, has rarely been reported in recurrent painful ophthalmoplegic neuropathy (RPON). This study aimed to determine the incidence and clinical significance of multi-cranial nerve involvement in RPON. METHODS:Eight patients (females = 5; mean age = 53.3 ± 15.6 years) who met International Classification of Headache Disorders-3 diagnostic criteria for RPON were enrolled at a single tertiary hospital. Repeated evaluations were performed for differential diagnosis, including cranial nerve examination, brain MRI, CSF analysis and serologic testing for autoimmune and tumor markers. Clinical features, neuroimaging findings and laboratory results were reviewed. RESULTS:Five patients (62.5%) had a present or past history of migraine. Among 25 ophthalmoplegic attacks, the abducens nerve was most frequently affected (60%), followed by the oculomotor nerve (32%). Most attacks were preceded by ipsilateral headache (4.0 ± 2.9 days; 88%). Facial nerve involvement was common (7/8, 87.5%); two patients had three recurrent facial neuropathies on the same side, and one showed simultaneous ipsilateral oculomotor and facial neuropathies. All facial neuropathies were peripheral. Of the three patients who underwent MRI for facial neuropathy, two demonstrated focal facial nerve enhancement. Postauricular pain usually preceded facial neuropathy and lacked migrainous features. Both facial neuropathy and ophthalmoplegia resolved within days to weeks. CONCLUSION:Facial neuropathy may be more common in RPON than previously recognized. Despite similarities to Bell's palsy, our findings support considering facial neuropathy within the RPON spectrum and suggest that recurrent, multifocal and alternating cranial neuropathy may underlie its pathophysiology.
