Spastic Paraplegia as a Novel Phenotype in Late Adulthood Onset POLG Disease: A Pathophysiological Continuum?
Objective: We report a case of late adult onset gradually progressive spastic paraplegia secondary to pathogenic variants in the POLG gene. Background: Many pathogenic mutations…The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
Objective: Mutations in the GOSR2 gene are associated with North Sea-Progressive Myoclonus Epilepsy (NS-PME). Because more recently additional phenotypes have been described we systematically reviewed…Ataxia as Diagnostic Dilemmas in HIV- related-Encephalitis with Positive Autoantibodies
Objective: The aim of this report is to highlight ataxia as an atypical symptom revealing HIV encephalitis associated with positive anti-neutrophil cytoplasmic antibodies (ANCA). Background:…Apraxia of Speech as a Presenting Feature in AP3B2 Antibody Associated Cerebellar Ataxia
Objective: We describe a unique presentation of AP3B2 antibody with apraxia of speech and cerebellar ataxia. Background: Adaptor Protein 3B2 (AP3B2) is a subunit of…Progressive cerebellar ataxia in primary Sjögren’s syndrome: a case report
Objective: To present a rare case of gradually progressing cerebellar ataxia due to systemic autoimmune disease. Background: Primary Sjögren’s syndrome (pSS) is an autoimmune disease,…Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…Childhood onset progressive myoclonus and ataxia in a patient with novel TBC1D2B gene mutation
Objective: Myoclonus, ataxia, tremor and dystonia have been described in some patients with TBC1D2B gene mutation. In this paper we present a patient with progressive…Acute Ataxia in children : a North-African Single Center Experience
Objective: The aim of our study is to define the most common clinical presentations, etiology and predictive factors of poor outcome in children presenting with…Explore cellular heterogeneities of orbitofrontal cortex in multiple system atrophy using spatial transcriptomics
Objective: To explore the spatial organization and cellular complexity of the orbitofrontal cortex (OFC) in multiple system atrophy (MSA) via spatial transcriptomic (SRT). Background: The…Association between Hyperglycemic Crisis Severity and Movement Disorders in Hispanic Patients with De Novo Hyperglycemia: A Cross-Sectional Study
Objective: Exploring the correlation between hyperglycemic crisis (HC) severity and movement disorders (MD) in Hispanic patients with De Novo Hyperglycemia (DNH). Background: Limited research exists…
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