Wild-type transthyretin amyloidosis (wtATTR) is an important cause of heart failure (HF); however, the prevalence and clinical significance of neurologic complications remains uncertain.

This analysis reports findings from a single-centre experience of routine neuropathy screening at the time of wtATTR diagnosis by nerve conduction studies and neurologist assessment, compared with age-matched controls.

Forty-one wtATTR patients were included, 39 (95%) males, mean age 78.4 ± 7.7 years, 22 (54%) New York Heart Association (NYHA) class III–IV HF, along with 15 age-matched controls (mean age 77.1 ± 4.2 years, 80% male). Twenty-one (51%) wtATTR patients were diagnosed with polyneuropathy, 15 (37%) with spinal stenosis, 36 (88%) with carpal tunnel syndrome (CTS) and 14 (34%) with ulnar neuropathy. Comparison diagnoses among controls were 1 (7%), 0, 1 (7%) and 3 (20%), respectively. Among patients with NYHA class III–IV HF, 16 (73%) had polyneuropathy compared with 5 (26%) with class I–II (p < 0.01), odds ratio of 7.5 (95% confidence interval 1.9–29.9). After neuropathy screening, 19 (46%) patients were offered neurologic therapy and/or additional diagnostic evaluation. This included CTS release surgery (16, 39%), neuropathic pain medication (3, 7%), nerve block (1, 2%), wrist splinting (2, 5%) and foot care (1, 2%). Spine imaging was performed for 3 (7%) patients, and deltoid muscle and sural nerve biopsy for 1 (2%) patient.

Screening of wtATTR patients for neurologic complications resulted in a management change for nearly half. CTS, polyneuropathy and ulnar neuropathy were common. This approach warrants consideration as part of routine assessment for newly diagnosed wtATTR patients.

To study the clinical profile and outcomes of patients with paraproteinemic neuropathy (PPN) and to explore the utility of nerve conduction studies (NCSs) to differentiate between the demyelinating subtypes.

We did a retrospective analysis of patients diagnosed with PPN between January 2010 and December 2019 in an inpatient setting. The study population consisted of patients above 16 years of age presenting with clinical features suggestive of chronic peripheral neuropathy and on evaluation was found to have PPN.

A total of 74 patients were identified. The patients were predominantly in the 6th decade, and the majority were males. The subtypes of PPN were monoclonal gammopathy of undetermined significance (MGUS) (45.9%), POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) (24.3%), solitary plasmacytoma (17.6%), multiple myeloma (8.1%), and AL amyloidosis (4.1%). There are specific features on NCS which can help in identifying POEMS syndrome and IgM MGUS. The majority of patients with PPN tend to stabilize or improve with treatment; however, many have a severe residual disability. New terminology and classification of these entities as ‘monoclonal gammopathies of neurological significance’ can aid in early diagnosis and the development of effective treatment, to prevent residual disability.

PPN has a heterogeneous spectrum of clinical, biochemical, and electrophysiological features. NCS can help distinguish POEMS syndrome and IgM MGUS from other demyelinating subtypes.

Radiofrequency thermocoagulation (RF-TC) is a minimally invasive ablative option for refractory focal epilepsy.

A retrospective chart review was conducted of all patients who underwent stereoelectroencephalography (SEEG)-guided RF-TC at our institution.

Fourteen patients underwent robot-guided electrode implantation and subsequent RF-TC. After RF-TC, one of the three patients with PVNH was seizure free, one had 18 months of seizure freedom (Engel 2b), and one required temporal neocortical/PVNH resection (Engel 1a). One of the four patients with focal cortical dysplasia (FCD) was seizure free (Engel 1a), two attained seizure freedom after resection (Engel 1a and 1b), while one continues to have significant seizures (Engel 4b). One patient with cavernoma and low central area epileptogenic zone (EZ) did not benefit from RF-TC and is planned for resection. Two of the MRI-negative patients achieved seizure freedom for 3 months and 1 year, respectively, subsequently requiring resection (Engel 1a). One remains seizure free at 4 weeks. Three had seizure recurrence immediately (Engel 4b). With RF-TC alone, two patients (14%) achieved Engel 1a, two were seizure free at 1 year, one had 3 months of seizure freedom, while the rest had recurrence immediately or within a few weeks. 7/14 patients underwent secondary interventions after RF-TC. Overall, seven patients achieved Engel 1a or 1b, one each 2b and 3a, and five Engel 4b.

At our institution, RF-TC is a safe ablative procedure for refractory focal epilepsy. It can serve as a segue to secondary interventions and appears promising in PVNH cases. Its role in MRI-negative cases is less clear.

Intervention time (IT) in response to seizures and adverse events (AEs) have emerged as key elements in epilepsy monitoring unit (EMU) management. We performed an audit of our EMU, focusing on IT and AEs.

We performed a retrospective study on all clinical seizures of admissions over a 1-year period at our Canadian academic tertiary care center’s EMU. This EMU was divided in two subunits: a daytime three-bed epilepsy department subunit (EDU) supervised by EEG technicians and a three-bed neurology ward subunit (NWU) equipped with video-EEG where patients were transferred to for nights and weekends, under nursing supervision. Among 124 admissions, 58 were analyzed. A total of 1293 seizures were reviewed to determine intervention occurrence, IT, and AE occurrence. Seizures occurring when the staff was present at bedside at seizure onset were analyzed separately.

Median IT was 21.0 (11.0–40.8) s. The EDU, bilateral tonic–clonic seizures (BTCS), and the presence of a warning signal were associated with increased odds of an intervention taking place. The NWU, BTCS, and seizure rank (seizures were chronologically ordered by the patient for each subunit) were associated with longer ITs. Bedside staff presence rate was higher in the EDU than in the NWU (p < 0.001). AEs occurred in 19% of admissions, with no difference between subunits. AEs were more frequent in BTCS than in other seizure types (p = 0.001).

This study suggests that close monitoring by trained staff members dedicated to EMU patients is key to optimize safety. AE rate was high, warranting corrective measures.

We investigated motor cortical excitability (CE) in unilateral temporal lobe epilepsy (TLE) and its relationship to bilateral tonic-clonic seizure (BTCS) using paired-pulse transcranial magnetic stimulation (TMS).

In this cross-sectional study, we enrolled 46 unilateral TLE patients and 16 age-and sex-matched healthy controls. Resting motor thresholds (RMT); short-interval intracortical inhibition (SICI, GABAA receptor-mediated); facilitation (ICF, glutamatergic-mediated) with interstimulus intervals (ISIs) of 2, 5, 10, and 15 ms; and long-interval intracortical inhibition (LICI, GABAB receptor-mediated) with ISIs of 200–400 ms were measured via paired-pulse TMS. Comparisons were made between controls and patients with TLE, and then among the TLE subgroups (no BTCS, infrequent BTCS and frequent BTCS subgroup).

Compared with controls, TLE patients had higher RMT, lower SICI and higher LICI in both hemispheres, and higher ICF in the ipsilateral hemisphere. In patients with frequent BTCS, cortical hyperexcitability in the ipsilateral hemisphere was found in a parameter-dependent manner (SICI decreased at a stimulation interval of 5 ms, and ICF increased at a stimulation interval of 15 ms) compared with patients with infrequent or no BTCS.

Our results demonstrate that motor cortical hyper-excitability in the ipsilateral hemisphere underlies the epileptogenic network of patients with active BTCS, which is more extensive than those with infrequent or no BTCS.

To estimate the minimum prevalence of adult hereditary ataxias (HA) and spastic paraplegias (HSP) in Eastern Quebec and to evaluate the proportion of associated mutations in identified genes.

We conducted a descriptive cross-sectional study of patients who met clinical criteria for the diagnosis of HA (n = 241) and HSP (n = 115) in the East of the Quebec province between January 2007 and July 2019. The primary outcome was the prevalence per 100,000 persons with a 95% confidence interval (CI). The secondary outcome was the frequency of mutations identified by targeted next-generation sequencing (NGS) approach. Minimum carrier frequency for identified variants was calculated based on allele frequency values and the Hardy–Weinberg (HW) equation.

The minimum prevalence of HA in Eastern Quebec was estimated at 6.47/100 000 [95% CI; 6.44–6.51]; divided into 3.73/100 000 for autosomal recessive (AR) ataxias and 2.67/100 000 for autosomal dominant (AD) ataxias. The minimum prevalence of HSP was 4.17/100 000 [95% CI; 4.14–4.2]; with 2.05/100 000 for AD-HSP and 2.12/100 000 for AR-HSP. In total, 52.4% of patients had a confirmed genetic diagnosis. AR cerebellar ataxia type 1 (2.67/100 000) and AD spastic paraplegia SPG4 (1.18/100 000) were the most prevalent disorders identified. Mutations were identified in 23 genes and molecular alterations in 7 trinucleotides repeats expansion; the most common mutations were c.15705–12 A > G in SYNE1 and c.1529C > T (p.A510V) in SPG7.

We described the minimum prevalence of genetically defined adult HA and HSP in Eastern Quebec. This study provides a framework for international comparisons and service planning.

Older persons with parkinsonism (PWP) are at high risk for hospitalization and adverse outcomes. Few effective strategies exist to prevent Emergency Department (ED) visits and hospitalization. The interdisciplinary Geriatrics Clinic for Parkinson’s (“our clinic”) was founded to address the complexity of parkinsonism in older patients, supported by a pharmacist-led telephone intervention (TI) service. Our primary objective was to study whether TI could avert ED visits in older PWP.

Using a prospective, observational cohort, we collected data from all calls in 2016, including who initiated and reasons for the calls, patient demographics, number of comorbidities and medications, diagnoses, duration of disease, and intervention provided. Calls with intention to visit ED were classified as “crisis calls”. Outcome of whether patients visited ED was collected within 1 week, and user satisfaction by anonymous survey within 3 weeks.

We received 337 calls concerning 114 patients, of which 82 (24%) were “crisis calls”. Eighty-one percent of calls were initiated by caregivers. Ninety-three percent of “crisis calls” resolved without ED visit after TI. The main reasons for “crisis calls” were non-motor symptoms (NMS) (39%), adverse drug effects (ADE) (29%), and motor symptoms (18%). Ninety-seven percent of callers were satisfied with the TI.

Pharmacist-led TI in a Geriatrics Clinic for Parkinson’s was effective in preventing ED visits in a population of older PWP, with high user satisfaction. Most calls were initiated by caregivers. Main reasons for crisis calls were NMS and ADE. These factors should be considered in care planning for older PWP.

Symptoms of cervical dystonia (CD) can vary in severity and cause significant pain. OnabotulinumtoxinA is an approved treatment for CD. This study assessed health-related quality of life (HRQoL) in patients with CD who received multiple onabotulinumtoxinA treatments.

This prospective, observational standard-of-care study was conducted at multiple neurology centers in Québec, Canada. Patients reported the health impact of CD using the Cervical Dystonia Impact Profile (CDIP)-58, before and after up to eight onabotulinumtoxinA treatments. Other measures included the Cervical Dystonia Severity Rating Scale by physician, employment status using the Work Productivity Questionnaire and pain using the Pain Numeric Rating Scale (PNRS). Adverse events (AEs) were recorded.

Sixty-two patients were enrolled (safety population, n = 61; modified efficacy population, n = 58). Participants were mostly females who were employed; most (79.3%) had torticollis. In all, 21/62 patients (33.9%) discontinued the study. At the final visit, there was a statistically significant (p < 0.001) improvement in all eight CDIP-58 subscales, particularly head and neck symptoms (−31.0) and psychosocial functioning (−28.2). Employment increased from baseline (55%) to the end of the study (64%), and there was improvement in work productivity. There was a significant (p < 0.0001) reduction in pain measured by the PNRS, from −0.5 post-treatment 1 to −2.4 at end of study. AEs (neck pain, muscular weakness, dysphagia, nausea) were consistent with onabotulinumtoxinA use.

These real-world data indicate that after repeated, long-term use, onabotulinumtoxinA continues to be a safe and effective treatment for CD, improving HRQoL and work productivity.

Contemporary data on temporal trends in acute stroke incidence, specific to stroke type and age, are lacking. We sought to evaluate temporal trends in incidence of ischemic stroke and intracerebral hemorrhage over 15 years in a large population.

We used linked administrative data to identify all emergency department visits and hospital admissions for first-ever ischemic stroke or intracerebral hemorrhage in Ontario, Canada from 2003–2017. We evaluated annual age-/sex-standardized incidence per 100,000 person-years for ischemic stroke and intracerebral hemorrhage across the study period. We used negative binomial regression to determine incidence rate ratios for each year compared to 2003, with assessment of modification by age, sex, or stroke type.

Our cohort had 163,574 people with stroke (88% ischemic stroke). For ischemic stroke and intracerebral hemorrhage combined, age-/sex-standardized incidence decreased between 2003 and 2011 (standardized rate 109.4 to 85.8 per 100,000; 22%), then increased until 2017 (standardized rate 96.8 per 100,000; 13%). The pattern of change was similar for ischemic stroke and intracerebral hemorrhage, and for men and women, but was modified by age. For those aged 60 and above, adjusted incidence rate ratios decreased from 2003 to 2011 then subsequently increased, whereas for those aged <60 years incidence rate ratios increased throughout the entire study time period, particularly after 2011.

Acute stroke incidence decreased from 2003 to 2011 but subsequently increased until 2017. Among those aged <60, incidence increased continuously from 2003 to 2017 but especially after 2011. The underlying reasons for these changes should be determined.

Occipital nerve regional stimulation (ONS) is reported to improve pain in several studies. We examined long-term pain and functional outcomes of ONS in an open-label prospective study.

Patients with medically refractory and disabling craniofacial pain were prospectively selected for ONS. Primary outcome was a change in mean daily pain intensity on the numeric pain rating scale (NPRS) at 6 months. Secondary outcomes included changes in NPRS, Headache Impact Test-6 (HIT-6), Migraine Disability Assessment (MIDAS), Pain Disability Index (PDI), Center for Epidemiologic Studies Depression Scale – Revised (CESD-R), and Short Form-36 version 2 (SF36) at last follow-up.

Thirteen patients (mean age 49.7 ± 8.4) diagnosed with occipital neuralgia (6), hemicrania continua (2), persistent idiopathic facial pain (2), post-traumatic facial pain (1), cluster headache (1), and chronic migraine (1) were enrolled. Mean NPRS improved by 2.1 ± 2.1 at 6 months and 2.1 ± 1.9 at last follow-up (23.5 ± 18.1 months). HIT-6 decreased by 8.7 ± 8.8, MIDAS decreased by 61.3 ± 71.6, and PDI decreased by 17.9 ± 18. SF36 physical functioning, bodily pain, and social functioning improved by 16.4 ± 19.6, 18.0 ± 31.6, and 26.1 ± 37.3, respectively. Moderate to severe headache days (defined as ≥50% of baseline mean NPRS) were reduced by 8.9 ± 10.2 days per month with ONS.

ONS reduced the long-term NPRS and moderate–severe monthly headache days by 30% and improved functional outcomes and quality of life. A prospective registry for ONS would be helpful in accumulating a larger cohort with longer follow-up in order to improve the use of ONS.

Patients with pregnancy-associated secondary brain tumors (PASBT) are challenging to manage. Because no guidelines for the management of such patients currently exist, we performed a systematic review of the literature using PRISMA guidelines with a discussion of management from a neurosurgeon’s perspective.

Systematic review of the literature using PRISMA guidelines from 1999 to 2018.

We identified 301 studies of which 16 publications (22 patients reporting 25 pregnancies, 20 deliveries, 5 early terminations) were suitable for final analysis. The most frequent primary cancers were breast (8/22, 36.36%), skin (6/22, 27.27%), and lung (5/22, 22.73%). Four patients (18.18%) had neurosurgical procedures during their pregnancies. Five patients (22.73%) received neurosurgical resection after their pregnancies. Nine patients (40.91%) received radiation therapy and seven patients (31.82%) received chemotherapy during pregnancy while seven patients (31.82%) received chemotherapy and radiation after pregnancy. There was 1 fetal death (5%) out of 20 healthy deliveries. Five pregnancies (20%) were terminated in the first trimester due to a need for urgent neurosurgical intervention.

Management of PASBT remains a challenging issue. Maternal and fetal risks associated with surgical resection and teratogenicity due to adjuvant therapy should be discussed in the context of a multidisciplinary team. Timing of surgery and the use of systemic chemoradiation depends on the gestational age (GA) of the fetus, extent, and control of the mother’s primary and metastatic disease. Guidelines need to be established to help neuro-oncology teams safely and effectively manage this group of patients.