Catalog
ASAP is committed to accelerating the pace of discovery and informing a path to a cure for Parkinson’s disease through collaboration, research-enabling resources, and data sharing. We’ve created this catalog to showcase the research outputs and tools developed by ASAP-funded programs.
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes
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.
Analysis of Y chromosome haplogroups in Parkinson’s disease
Published: This paper explores the role of the Y chromosome in PD by analyzing whole genome sequencing data from multiple sources.
Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk
Published: This paper examines the role of heterozygous Parkin mutations in three large independent case control cohorts.
Assessment of heterogeneity and disease onset in the Parkinson’s Progression Markers Initiative (PPMI) cohort using the α-synuclein seed amplification assay: a cross-sectional study
Our results demonstrate that the assay classifies PD patients with high sensitivity and specificity, provides information about molecular heterogeneity, and detects prodromal individuals prior to diagnosis. These findings suggest a crucial role for αSyn-SAA in therapeutic development, both to identify pathologically defined subgroups of PD patients and to establish biomarker-defined at-risk cohorts.
Biomarkers of neurodegeneration and glial activation validated in Alzheimer’s disease assessed in longitudinal cerebrospinal fluid samples of Parkinson’s disease
Published: This article assessed an established biomarker panel, validated in Alzheimer’s Disease, in a PD cohort.
Deficiency in endocannabinoid synthase 1 DAGLB contributes to Parkinson’s disease and dopaminergic neuron dysfunction
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.
Dopamine transporter imaging predicts clinically‐defined α‐synucleinopathy in REM sleep behavior disorder
Published: This article describes the utility of using DAT SBR to identify individuals with iRBD with increased short-term risk of an aSN diagnosis.
Dystonia-Parkinsonism Gene Variants in Individuals with Parkinsonism and Brain Scans without Evidence for Dopaminergic Deficit (SWEDD)
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.
GRN mutations are associated with Lewy body dementia
Published: This paper sought to assess a Lewy body dementia case control cohort for pathogenic variants in GRN and identify mutations among patients.
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease
Published: In this paper, the authors completed a comprehensive assessment of Parkin mutations at population-scale to understand the prevalence of heterozygous Parkin mutations.
High diagnostic performance of independent alpha-synuclein seed amplification assays for detection of early Parkinson’s disease
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.
Impact of the dopamine system on long-term cognitive impairment in Parkinson’s disease: An exploratory study
The study provides preliminary evidence that alterations in the dopamine system predict the development of clinically-relevant, cognitive impairment in Parkinson’s disease. If replicated and determined to be causative, they demonstrate that the dopamine system is instrumental to cognitive health status throughout the disease course.
Joint modeling study identifies blood-based transcripts link to cognitive decline in Parkinson’s disease
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.
Longitudinal Analysis of Multiple Neurotransmitter Metabolites in Cerebrospinal Fluid in Early Parkinson’s Disease
Published: This study aimed to quantifiy multiple metabolites in CSF from PD versus healthy control subjects (HCs), including longitudinal analysis.
