GRN mutations are associated with Lewy body dementia
By savannah onPublished: This paper sought to assess a Lewy body dementia case control cohort for pathogenic variants in GRN and identify mutations among patients.
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk
By savannah onPublished: This paper examines the role of heterozygous Parkin mutations in three large independent case control cohorts.
Analysis of Y chromosome haplogroups in Parkinson’s disease
By savannah onPublished: This paper explores the role of the Y chromosome in PD by analyzing whole genome sequencing data from multiple sources.
Deficiency in endocannabinoid synthase 1 DAGLB contributes to Parkinson’s disease and dopaminergic neuron dysfunction
By savannah onPublished: In this paper, the authors linked multiple homozygous loss-of-function mutations in the endocannabinoid 2-AG synthase diacylglcerol lipase beta (DAGLB) to early onset autosomal recessive PD using genetic knockdown and pharmacological inhibition of 2-AG in substantia nigra dopaminergic neurons.
Replication assessment of NUS1 variants in Parkinson’s disease
By savannah onPublished: NUS1 was recently associated with PD in the Chinese population. Here, the authors used large-scale PD case-control cohorts to assess NUS1 variants in individuals of European ancestry.
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes
By savannah onPublished: This paper examines the H1 haplotype of the MAPT 17q.21.31 locus to better understand its contribution to PD. The authors found three novel H1 sub-haplotype blocks across the 17q.21.31 locus that is associated with PD risk.
The Parkinson’s disease protein alpha-synuclein is a direct modulator of RNA processing-bodies and mRNA stability
By savannah onPublished: The authors explored the molecular roles of alpha-synuclein and found that it directly modulates processing bodies (P-bodies), organelles that are involved in mRNA turnover and storage.
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease
By savannah onPublished: In this paper, the authors completed a comprehensive assessment of Parkin mutations at population-scale to understand the prevalence of heterozygous Parkin mutations.
Joint modeling study identifies blood-based transcripts link to cognitive decline in Parkinson’s disease
By savannah onPublished: In this paper, the authors sought to find transcriptome-wide biomarkers in blood that could predict cognitive decline and identify PD patients at risk of developing cognitive impairments. Using transcriptome-wide longitudinal gene expression modeling analysis, they identified blood-based five transcripts associated with cognitive decline.
Multi-platform proteomic analysis of Alzheimer’s disease cerebrospinal fluid and plasma reveals network biomarkers associated with proteostasis and the matrisome
By savannah onPreprint: The authors analyzed cerebrospinal fluid and plasma from Alzheimer's patients using various assays to understand which protein markers in these biofluids may be reliable biomarkers for AD pathophysiology.
Dystonia-Parkinsonism Gene Variants in Individuals with Parkinsonism and Brain Scans without Evidence for Dopaminergic Deficit (SWEDD)
By taliag onPreprint: The authors aimed to investigate the genetic etiology of dystonia-parkinsonism through examining individuals with DAT SPECT scans without evidence of dopamine defects (SWEDD). They found pathogenic variants in parkinsonian-dystonia genes occurred in more than 10% of SWEDD individuals.
Biomarkers of neurodegeneration and glial activation validated in Alzheimer’s disease assessed in longitudinal cerebrospinal fluid samples of Parkinson’s disease
By taliag onPublished: This article assessed an established biomarker panel, validated in Alzheimer’s Disease, in a PD cohort.
Longitudinal Analysis of Multiple Neurotransmitter Metabolites in Cerebrospinal Fluid in Early Parkinson’s Disease
By taliag onPublished: This study aimed to quantifiy multiple metabolites in CSF from PD versus healthy control subjects (HCs), including longitudinal analysis.
Seed Amplification Assay to Diagnose Early Parkinson’s and Predict Dopaminergic Deficit Progression
By taliag onPublished: This article uses an optimized high-throughput αS-SAA (based on a previously described α-Syn protein misfolding cyclic amplification (PMCA) assay)2, 5, 6 that detects αSyn aggregates in CSF, to evaluate 140 blinded samples from the Parkinson's Progression Markers Initiative (PPMI).
Dopamine transporter imaging predicts clinically‐defined α‐synucleinopathy in REM sleep behavior disorder
By taliag onPublished: This article describes the utility of using DAT SBR to identify individuals with iRBD with increased short-term risk of an aSN diagnosis.
High diagnostic performance of independent alpha-synuclein seed amplification assays for detection of early Parkinson’s disease
By Blythe Lloyd onPublished: This article compared blinded cerebrospinal fluid (CSF) samples for a randomly selected subset of PPMI subjects (30 PD, 30 HC, and 20 SWEDD) and analyzed each in parallel using different αSyn-SAA protocols to understand the reproducability of aSyn-SAA as a diagnostic tool.
