GRN mutations are associated with Lewy body dementiaon
Published: 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 riskon
Published: This paper examines the role of heterozygous Parkin mutations in three large independent case control cohorts.
Analysis of Y chromosome haplogroups in Parkinson’s diseaseon
Published: 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 dysfunctionon
Published: 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 diseaseon
Published: 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 astrocyteson
Published: 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 stabilityon
Published: 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 diseaseon
Published: 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 diseaseon
Published: 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 matrisomeon
Preprint: 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)on
Preprint: 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 diseaseon
Published: 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 Diseaseon
Published: 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 Progressionon
Published: 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 disorderon
Published: 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 diseaseon
Published: 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.