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Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive disease caused by mutations in the TTR gene leading to multisystem organ dysfunction. Pathogenic TTR aggregation, misfolding, and fibrillization lead to deposition of amyloid in multiple body organs and frequently involve the peripheral nerve system and the heart. Common neurologic manifestations include: sensorimotor polyneuropathy (PN), autonomic neuropathy, small-fiber PN, and carpal tunnel syndrome. Many patients have significant progression due to diagnostic delays as hATTR PN is not considered within the differential diagnosis. Recently, two effective novel disease-modifying therapies, inotersen and patisiran, were approved by Health Canada for the treatment of hATTR PN. Early diagnosis is crucial for the timely introduction of these disease-modifying treatments that reduce impairments, improve quality of life, and extend survival. In this guideline, we aim to improve awareness and outcomes of hATTR PN by making recommendations directed to the diagnosis, monitoring, and treatment in Canada.
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is caused by a mutation in the transthyretin (TTR) gene. Although classically described as rapidly progressive and life-threatening, recent studies on TTR-FAP show significant genetic and phenotypic heterogeneity depending on geographic localization. In light of new therapeutic advances and their implication for patient management, the aim of our study was to determine the prevalence of TTR-FAP within patients with idiopathic neuropathy in a North American population.
We sequenced the TTR gene in a cohort of patients with idiopathic neuropathy. Genetic screening was performed in 110 patients from two neuromuscular clinics in Montreal, Canada.
No variants of unknown significance or pathogenic mutations were detected in the TTR gene.
Our study confirms that TTR-FAP is a rare entity in our patient population, and that diagnostic yield of screening all patients with idiopathic neuropathy is very low.
Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.
The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.
The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.
Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.
Background: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease resulting in muscle weakness, dysarthria and dysphagia, and ultimately respiratory failure leading to death. Half of the ALS patients survive less than 3 years, and 80% of the patients survive less than 5 years. Riluzole is the only approved medication in Canada with randomized controlled clinical trial evidence to slow the progression of ALS, albeit only to a modest degree. The Canadian Neuromuscular Disease Registry (CNDR) collects data on over 140 different neuromuscular diseases including ALS across ten academic institutions and 28 clinics including ten multidisciplinary ALS clinics. Methods: In this study, CNDR registry data were analyzed to examine potential differences in ALS care among provinces in time to diagnosis, riluzole and feeding tube use. Results: Significant differences were found among provinces, in time to diagnosis from symptom onset, in the use of riluzole and in feeding tube use. Conclusions: Future investigations should be undertaken to identify factors contributing to such differences, and to propose potential interventions to address the provincial differences reported.
Cet article présente le processus de traduction en français du Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), le seul outil de mesure validé évaluant la sévérité de la maladie chez les enfants atteints de CMT. Le processus de traduction utilisé s’inspire des lignes directrices de la Food and Drug Administration (FDA). La version préliminaire francophone du CMTPedS a été testée auprès de 14 enfants atteints. Les résultats de l’application démontrent que la passation a été bien tolérée par les enfants et s’est avérée conviviale pour les cliniciens. La disponibilité de cet outil en français semble prometteuse pour le suivi des enfants atteints et la réalisation d’essais clinique.
Charcot and Babinski: beyond a simple teacher-student relationship. Jean-Martin Charcot (18251893) is now considered to be the father of clinical neurology in France. He trained a generation of eminent neurologists, among them Joseph Babinski, with whom he had a special relationship. Babinski was undoubtedly Charcot's favorite pupil and they enjoyed an excellent collaboration at la Salpétrière. Even though both men felt tremendous respect for each other, it is sad that this relationship may, in one instance, have been detrimental to Babinski. This is probably the reason why Bouchard denied him full professorship, a decision with eventual consequences for both men. In spite of this, the neurologist of Polish origin held his master in tremendous admiration, even as he pursued Charcot's research on hysteria after his death. Even though Babinski eventually contradicted his master on many fundamental issues, it did not affect his devotion to him. The relationship between the two men can be considered as more than a simple relationship between a teacher and his pupil and may be compared to a father-son relationship, which is a reminder of the original model of Hippocratic teaching.
Cluster headache is recognized by the International Headache Society as a primary headache disorder, consisting of seasonal and daily attacks of severe unilateral periorbital pain accompanied by autonomic symptoms. As with other primary headache disorders, intracranial lesions can rarely mimic cluster headaches, in particular if it presents in an atypical fashion. We report a patient with chronic cluster-like headache secondary to a clival based epidermoid cyst. This is the first such association reported in the literature.
A 39-year-old man with no significant past medical history and no current medications was referred with a three-year history of strictly right-sided headaches. Two to three times daily, he suffered attacks of excruciating pressure-like pain in the periorbital and frontal area on the right. These lasted between 10 and 90 minutes and occasionally woke him from sleep. They
were always accompanied by numbness of the upper part of his face, increased lacrimation, rhinorrhea and ptosis on that side. Occasionally, he had nausea and vomiting as well. Since the
onset of symptoms, attacks occurred almost daily and never remitted for more than four weeks. He tried methysergide, gabapentin, carbamazepine, lithium carbonate and corticosteroids without success. Later, his attacks have occasionally involved the left side.
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