OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review
Objective: To describe a novel case of OPTN multiexon deletion causing a peculiar CBS-ALS phenotype. Background: While traditionally classified as distinct clinical entities, corticobasal syndrome…Understanding Patient and Care Partner Educational Preferences in Atypical Parkinsonism
Objective: To discern preferences for education and community connection among people affected by progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), or multiple system atrophy (MSA).…Legmain/Asparaginyl endopeptidase-resistant tau fibril fold produces corticobasal degeneration-specific C-terminal tau fragment
Objective: This study monitored the formation of CBD (corticobasal degeneration)-type fibrils that exhibit astrocytic plaques, a characteristic CBD pathology, using Legumain-cleavage site-specific antibodies and CBD-specific…Environmental risk factors and demographic of patients with Progressive Supranuclear Palsy from Argentina
Objective: To describe the environmental risk factors and family history in Argentinian patients with diagnosis of progressive supranuclear palsy (PSP). Background: Background: The current epidemiology…Identification of underlying Lewy body pathology in primary tauopathies by α-synuclein seed amplification assay
Objective: To determine intravitam prevalence of α-synuclein (αSyn) pathology in primary tauopathies, such as PSP and CBS, by αSyn seed amplification assay (synSAA) Background: Neuropathological…Pisa Syndrome as an early presenting feature of Corticobasal Ganglionic degeneration [CBGD]
Objective: To describe Pisa syndrome as an early presenting feature of CBGD and add to literature on CBGD so that neurologists can suspect CBGD when…Brain FDG-PET-MRI for early diagnosis of corticobasal syndrome
Objective: To characterize brain fluorodeoxyglucose (FDG) PET-MRI findings in patients with corticobasal syndrome (CBS) and evaluate its utility in early diagnosis of Corticobasal Degeneration (CBD)…Determinants of care partner burden in atypical parkinsonian syndromes
Objective: To understand the determinants of burden among people caring for individuals diagnosed with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), or multiple system atrophy…Early-onset cortico-basal degeneration (CBD) due to a c.2092G>A MAPT mutation
Objective: To describe a patient with early-onset atypical parkinsonism that evolved to a classic CBD without dementia, associated to a c.2092G>A MAPT mutation Background: Although…Autoimmune encephalitis due to antiglycine antibodies presenting as corticobasal syndrome
Objective: To describe a complex case of atypical parkinsonism compatible with corticobasal syndrome (CBS), associated with autoimmune findings in serum and cerebrospinal fluid (CSF) and…
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