“Speaking aids in neurodegenerative ataxia: how to deal with own disability”
Objective: To highlight the role of self-initiated coping strategies in symptoms management of patients with neurodegenerative ataxia. Background: Ataxia is a neurological condition that manifests…Salivary α-synuclein in Parkinson’s disease – a pilot study
Objective: The aim of our study was to measure total salivary α-synuclein in Parkinson´s disease (PD) patients to assess its potential as a biomarker of…Evaluation of possible pre-motor symptoms of Parkinson’s disease in a GBA-mutation positive cohort, as well as Gaucher disease patients.
Objective: To clinically evaluate a cohort of healthy glucocerebrosidase (GBA) mutation carriers in search of early biomarkers for neurodegeneration that may be prodromal features of…Digital gait and turning impairments (quality but not quantity) during daily life are more severe in retrospective fallers compared to non-fallers with Parkinson’s disease
Objective: To investigate which specific digital gait and turning measures, obtained with body-worn sensors, best differentiate fallers from non-fallers with PD during daily life. Background:…Unilateral GPi DBS in Secondary Myoclonus-Dystonia Syndrome after Acute Disseminated Encephalomyelitis: A Case Report
Objective: To present a case of deep brain stimulation (DBS)-ameliorated myoclonus-dystonia syndrome secondary to acute disseminated encephalomyelitis (ADEM) and characterize fibers and circuits affected by…Spinocerebellar Ataxia Autosomal Recessive Type 10 Misdiagnosed as a Multiple System Atrophy Type C: a Case Report.
Objective: Spinocerebellar ataxia autosomal recessive type 10 (SCAR 10) is a very rare cause of slowly progressive cerebellar ataxia caused by mutations of ANO10 gene…Early-phase 18F-FP-CIT PET images: a promising imaging biomarker for predicting early dementia conversion in Parkinson’s disease
Objective: This study aims to investigate whether early-phase 18F-N-(3-fluoropropyl)-2β-carboxymethoxy-3β-(4-iodophenyl) nortropane (18F-FP-CIT) positron emission tomography (PET) images (i.e., images acquired within the first 10 min after…TREM2 maintain microglial proliferation and α-syn accumulation in PD models via the PI3K-Akt pathway
Objective: To investigate the effect and role of TREM2 in microglial proliferation, α-syn-associated pathology and dopaminergic degeneration in Parkinson’s disease (PD). Background: PD is characterised…Combined effect of polygenic background and GBA Pathogenic variants in Parkinson’s disease risk
Objective: We aimed to investigate whether polygenic background affects the penetrance of Parkinson’s disease (PD) among carriers of heterozygous pathogenic variants (PV) in GBA. Background: Several rare homozygous mutations within…Social and gender inequity on overall survival and access to deep brain stimulation in Parkinson disease patients in Colombia
Objective: Describe discrepancies on survival and access to DBS in PD in Colombia by gender and affiliation regime. Background: Lower socioeconomic status (SES) has been…
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