Baseline multimodal information predicts future motor impairment in premanifest Huntington’s disease
Objective: To evaluate the prognostic accuracy of structural magnetic resonance imaging and genetic-based measures in premanifest Huntington’s disease for estimating future motor impairment. Background: Despite…Mutant DNAJC13 modulates accumulation and toxicity of alpha-synuclein through altered endosomal trafficking in cell and fly models of Parkinson’s disease
Objective: The aim of this study is to investigate the effect of DNAJC13 mutation on the vesicle transport, α-synuclein (αSYN) distribution/catabolism, and neurodegeneration using a…Brain insulin resistance in Parkinson’s disease
Objective: To test the hypothesis that brain insulin resistance (i.e. decreased insulin/insulin like growth factor (IGF)-1 signaling) occurs in the substantia nigra pars compacta (SNc)…Reproducibility of data-driven Parkinson’s disease subtypes for clinical research using a Delphi process for expert-based consensus.
Objective: To assess reproducibility of published data-driven PD subtype classification systems. Background: There is no consensus on which is the most robust PD subtype classification…The value of the Tau/α-synuclein ratio and TNF-α in cerebrospinal fluid, and of plasma IL-6, in the diagnosis and prognosis of Parkinson’s disease
Objective: To evaluate cerebrospinal fluid (CSF) levels of proteins associated with neuropathological inclusions and ratios among them and CSF and plasma levels of inflammation-related proteins…a-synuclein neurotoxicity and spreading using Lewy Body extracts from Parkinson Disease Brains: In vitro screening by cell-based assays
Objective: To define the kinetics of neuronal and astrocytic abnormalities induced by human-derived α-syn aggregates for grounding the use of such system to identify and…Detection of Early Changes in Microbiota Composition in Prodromal Parkinson’s Disease
Objective: To identify predictive markers of Parkinson’s disease (PD) in the gut microbiota composition of subjects at risk for developing PD due to a positive…Alpha-synuclein protein homeostasis and oligomerization in iron-overloaded cells expressing mutant HFE
Objective: Study the direct and indirect effects of iron overload on alpha synuclein homeostasis in a genetic model of hemochromatosis (HFE) Background: Parkinson’s disease (PD)…FXTAS, PD, and ET subjects demonstrate distinct gait, balance and tremor deficits under normal, environmentally challenging, and dual-task conditions
Objective: To compare FXTAS, PD, ET and controls using quantitative measures of gait, balance, and tremor. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease…Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…
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