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…How does the PPP2R2B mutation alter neuronal cytoskeletal structure in SCA12
Objective: To study the effect of the PPP2R2B mutation on human induced pluripotent stem cell (iPSC) derived neurons in SCA12 patients. Background: SCA12 is an…Movement Disorders in De Novo Hyperglycemic Crisis: Insights from a Clinical Case Series
Objective: To investigate the clinical spectrum and implications of movement disorders (MD) in patients presenting with de novo hyperglycemic crisis (DNHC). Background: DNHC, characterized by…Progressive Myoclonic Ataxia: Neuroinflammation and Autoantibodies Against Inhibitory Synapses and Herpes Viruses
Objective: Our goal was to study the autoimmune mechanisms of neuroinflammation in progressive myoclonic ataxia. Background: There are 2 different Ramsay Hunt syndromes named after…
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