Understanding Referral Patterns to a Pediatric Movement Disorders Clinic: A Quality Improvement Project
Objective: To implement a Quality Improvement initiative analyzing referral patterns to an Ontario pediatric movement disorder clinic to develop a better understanding of the acceptance,…Bilateral Pallidal Deep Brain Stimulation in Secondary Dystonia in Louis-Bar-Syndrome Patients – A Report of Two Cases-
Objective: Deep Brain Stimulation (DBS) is an established treatment for various movement disorders, including primary dystonia. The effect in secondary dystonia is less well studied.…Disease Monitoring through the PKAN Disease Rating Scale (PKAN-DRS) in Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Objective: To assess the utility of PKAN-DRS as an outcome measure for monitoring disease progression in PKAN . Background: The PKAN-DRS assess multiple domains affected…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Diagnosis of GLUT1 Deficiency Syndrome in Adulthood
Objective: To present a case of GLUT1 deficiency syndrome diagnosed in adulthood emphasizing the need to keep this diagnosis in differential for adult patients with…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…Spinocerebellar Ataxia Recessive Type 7 (SCAR7) in a Consanguineous Family: A Case Report
Objective: Spinocerebellar ataxia autosomal recessive type 7 (SCAR7) is a rare disorder caused by biallelic pathogenic variants in TPP1. It usually manifests in childhood or…Precision Gene Therapy Results in Clinical Benefit and Developmental Gains for Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience
Objective: To describe the UK cohort of children who have received regional brain-targeted gene therapy (GT) for AADCd Background: Classical AADCd is an ultra-rare genetic…Movement disorders as a manifestation of aceruloplasminemia a case report
Objective: To develop a step-by-step diagnostic approach to aceruloplasminemia with initial presentation of movement disorders Background: Aceruloplasminemia is a rare iron overload disorder with autosomal…Neuroimaging abnormalities of the striatopallidal regions in people with diabetes: A single-center retrospective study
Objective: To describe the imaging abnormalities affecting striatopallidal regions (SP; caudate, putamen, and globus pallidum) in people with diabetes mellitus (DM). Background: DM can lead…
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