Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4–17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

Vanishing white matter disease (VWMD) due to eIF2B mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings. Both had spastic ataxia and cognitive and behavioural disturbances. Other neurological features included myoclonic jerks and parkinsonism. At the last follow-up (duration: 2–9 years), one patient was wheelchair-bound. VWMD is rare in adults but should be suspected based on radiological findings and confirmed by eIF2B mutation.

Applause sign (AS) is a clinical phenomenon observed in several neurological disorders including progressive supranuclear palsy (PSP). We investigated the factors associated with AS in patients with PSP. PSP patients with AS showed greater motor impairment compared to those with negative AS. Global cognition including attention and memory were affected more in patients with positive AS. We also observed that gait variability, a known marker for unstable gait is pronounced in those who presented with positive AS. Hence, the clinician might expect a more severe disease and an unstable gait in a PSP patient presenting with AS.

Background: The frontal eye fields (FEFs) are linked to oculomotor control and hypothesized to reside in the prefrontal cortex, where electrical stimulation reportedly evokes contraversive eye movements. The exact location and function of the FEFs in humans is controversial. Stereo-electroencephalography (SEEG) is a minimally invasive technique used to guide epilepsy surgery. It provides a unique opportunity to collect human neurophysiological data outside of the operating room and has been used by other groups to advance our understanding of specific brain functions. Methods: Two pediatric subjects undergoing non-lesional epilepsy workup were enrolled into this prospective, IRB-approved study, and received brain MRI prior to SEEG implantation. SEEG recordings were collected with video of the subjects’ eyes while performing gaze-related tasks. Results: Stimulation testing elicited contraversive head turning with or without eye deviation, and hemifacial spasm, depending on the site of stimulation. Low-threshold sites eliciting these stereotyped movements were located just deep to the inferior precentral gyrus. Stimulation of sites in the posterior middle frontal gyrus did not elicit eye movements. Conclusions: Our findings suggest that the FEFs are located more posteriorly than widely held, involving the motor cortex. Further testing in pediatric and adult subjects is warranted to confirm this hypothesis.

We present five cases of pediatric drug-resistant epilepsy (DRE) that failed management using high cannabidiol (CBD) doses, but had significant reduction in seizure frequency with reintroduction or increasing doses of tetrahydrocannabinol (THC). There is growing evidence supporting the use of whole-plant CBD-rich extracts (containing THC and other cannabinoids) in the treatment of pediatric DRE. Based on our experiences and reports in the literature, we propose that, in patients who fail management with an initial trial of high-dose CBD-focused therapy, there may be a role for add-on THC-focused formulations.

We examined the accuracy of International Classification of Disease 10th iteration (ICD-10) diagnosis codes within Canadian administrative data in identifying cerebral venous thrombosis (CVT). Of 289 confirmed cases of CVT admitted to our comprehensive stroke center between 2008 and 2018, 239/289 were new diagnoses and 204/239 were acute events with only 75/204 representing symptomatic CVTs not provoked by trauma or structural processes. Using ICD-10 codes in any position, sensitivity was 39.1% and positive predictive value was 94.2% for patients with a current or history of CVT and 84.0% and 52.5% for acute and symptomatic CVTs not provoked by trauma or structural processes.

Background: All guidelines for DBS in Parkinson’s disease (PD) include a contraindication for ‘dementia’. It is unclear where this cut-off should occur and if patients with mild cognitive impairment (MCI) do not do as well. This prospective cohort analysis assessed if pre-operative cognition affected post-operative quality of life. Methods: PD patients receiving bilateral STN-DBS (n=100) were prospectively studied using STROBE guidelines. All had Montreal Cognitive Assessment (MoCA), motor (UPDRS), mood (BDI-II), and quality of life (Parkinson Disease Questionnaire summary index, PDQ-39-SI). Two cohorts, pre-operative MCI (MoCA:18-25) and normal cognition (MoCA:26-30), had post-operative PDQ-39-SI at 1-year. The primary outcome was the proportion of patients with an improved PDQ-39-SI at 1-year. Results: Cohorts were not significantly different in age, severity of illness, response to dopamine, or mood. MCI was present in 27/100. Improved quality of life at 1-year occurred in 75% with normal cognition and 70% with MCI (p=0.54) with RR=1.1 (95% CI, 0.8-1.5). Linear regression analysis showed no correlation between pre-operative cognition and post-operative outcome (R2=0.02). Conclusions: Parkinson’s patients with MCI should be offered DBS if their motor symptoms require surgery. Guidelines for DBS surgery in PD should change from “dementia is contraindicated” to “patients require adequate cognitive functioning, MoCA greater than equal to 18.”