Digital Measures for Clinical Trial Endpoints in Huntington’s Disease (MEND-HD): Study Design and Status Update
Objective: To evaluate and establish the analytical validation, reliability, and meaningfulness of digital measures of gait and chorea in early Huntington’s disease (HD). Background: HD…Role of 7-Tesla MRI in assessing clinical symptoms in CSF1R-Related Disorders
Objective: To evaluate utility of 7-tesla magnetic resonance imaging (7T MRI) as a biomarker of CSR1R-Related Disorder (CSF1R-RD). Background: CSF1R-RD is a rapidly progressive neurodegenerative…Whispers of Hope Motor and Psychiatric Recovery in Fahr’s Disease with High-Frequency rTMS: A Case Report
Objective: To present a case of FD showing significant motor and psychiatric improvement following high-frequency rTMS of the DLPFC Background: Fahr’s disease (FD) is a…Diagnostic mismatches between clinical assessment, imaging and alpha-synuclein biomarkers in parkinsonian syndromes
Objective: To analyze the frequency of matching information provided by traditional clinical assessment, dopamine transporter (DaTscan), and skin biopsy results in patients with undiagnosed parkinsonian syndromes. Background:…Rapid Onset Progressive Dystonia with Parkinsonism
Objective: To illustrate a case of a patient presenting with oromandibular dystonia with blepharospasm (Meige syndrome) and progressing to a segmental dystonia with parkinsonism. This…Comparison of Prodromal Features between Parkinson’s Disease and Dementia with Lewy Bodies over 15 Years
Objective: Compare the association of classic prodromal features with subsequent development of Parkinson’s Disease (PD) versus Dementia with Lewy Bodies (DLB). Background: DLB shares pathology…MicroRNA Landscape of Multiple System Atrophy: Insights from Plasma and Patient-Derived Induced Pluripotent Stem Cell Models
Objective: To identify small non-coding RNAs (sncRNAs) signatures in multiple system atrophy (MSA) and elucidate their functional mechanisms within patient-derived induced pluripotent stem cell-differentiated oligodendrocytes…Cutaneous Phosphorylated Alpha-Synuclein Deposition in Multiple System Atrophy
Objective: To report differences in the amount, localization and topographic distribution of cutaneous P-SYN deposition between cerebellar and parkinsonian variants of MSA. Background: MSA is…Connectome of Pathology Stages of Progressive Supranuclear Palsy
Objective: Find the relations between normative FC and seed-to-seed correlations in pathological tau load. Model the FC maps for twelve patients, using post-mortem tau pathology…Absence of identifiable neuropathological correlates of cognitive impairment in multiple system atrophy
Objective: To analyze neuropathological correlates of cognitive impairment in multiple system atrophy (MSA) and characterize the affected cognitive domains. Background: Current MSA census criteria delineate…
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