Evaluation of Actigraphy-Based Circadian Rhythm and Motor Function Measures for Monitoring Treatment of Lewy Body Dementia in PRESENCE Study
Objective: To evaluate if wrist actigraphy data can derive clinically meaningful information reflecting circadian rhythm and motor functions from patients with Lewy body dementia (LBD)…Late Onset Ataxia, Myoclonus, and Cognitive Decline in a Patient with Xeroderma Pigmentosum: A Case Report
Objective: To present a case of late onset neurologic symptoms of ataxia, myoclonus, and cognitive impairment in a 37-year-old man with xeroderma pigmentosum (XP). Background:…All that is gold does not glitter: SPG11 mimicking Westphal variant of Huntington’s disease
Objective: Our objective was to bring light into infrequent causes of gait disorders in children mimicking well-known diseases, specifically with relevant family background. Background: Hereditary…Mutant WDR45 leads to altered ferroptosis in β-propeller protein-associated neurodegeneration
Objective: To functionally characterize WDR45-mediated BPAN (Beta-propeller protein-associated neurodegeneration). Background: BPAN patients usually present with global developmental delay and autistic features in early childhood and…Long non-coding RNAs in Parkinson’s disease: bringing back life to the grey matter?
Objective: Our study aims to discover and delineate the role of novel long non-coding RNAs (lncRNAs) in Parkinson’s disease (PD). Background: LncRNAs have been widely…Preliminary results on the cognitive profile in prodromal Parkinson’s disease – a prospective study
Objective: This study aims to investigate the cognitive profile in people with REM-sleep behavior disorder (RBD) and hyposmia, in a prodromal Parkinson’s disease (PD) cohort.…Machine learning-based classification of SCA1, SCA2, and Healthy controls using graph features
Objective: To differentiate genetic variants of spinocerebellar ataxia (SCA1 and SCA2) and healthy controls using machine learning on resting-state functional Magnetic Resonance Imaging graph features.…Visual system abnormalities and visual hallucinations in Parkinson’s disease
Objective: We aimed to identify clinical and imaging biomarkers of visual system injury associated with the presence of Visual hallucinations (VH) in Parkinson's disease (PD).…Mitochondrial and autophagy alteration in a new fatty acid hydroxylase-associated neurodegeneration (FAHN) model
Objective: Establishing a FAHN Drosophila model to identify cellular disease mechanisms. Background: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is an early-onset neurodegenerative disease that manifests brain…Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report
Objective: report the case of a young woman who presented with rapidly progressive ataxia caused by an ovarian teratoma Background: paraneoplastic cerebellar degeneration (PCD) is…
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