Creating the Pick's disease International Consortium: Association study of
MAPT
Pick’s disease
frontotemporal dementia
genetics
haplotype
tau
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
24 Apr 2023
24 Apr 2023
Historique:
pubmed:
10
5
2023
medline:
10
5
2023
entrez:
10
5
2023
Statut:
epublish
Résumé
Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the We established the Pick's disease International Consortium (PIC) and collected 338 (60.7% male) pathologically confirmed PiD brains from 39 sites worldwide. 1,312 neurologically healthy clinical controls were recruited from Mayo Clinic Jacksonville, FL (N=881) or Rochester, MN (N=431). For the primary analysis, subjects were directly genotyped for Our primary analysis found that the The PIC represents the first opportunity to perform relatively large-scale studies to enhance our understanding of the pathobiology of PiD. This study demonstrates that in contrast to its protective role in 4R tauopathies, the
Sections du résumé
Background
UNASSIGNED
Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the
Methods
UNASSIGNED
We established the Pick's disease International Consortium (PIC) and collected 338 (60.7% male) pathologically confirmed PiD brains from 39 sites worldwide. 1,312 neurologically healthy clinical controls were recruited from Mayo Clinic Jacksonville, FL (N=881) or Rochester, MN (N=431). For the primary analysis, subjects were directly genotyped for
Findings
UNASSIGNED
Our primary analysis found that the
Interpretation
UNASSIGNED
The PIC represents the first opportunity to perform relatively large-scale studies to enhance our understanding of the pathobiology of PiD. This study demonstrates that in contrast to its protective role in 4R tauopathies, the
Identifiants
pubmed: 37163045
doi: 10.1101/2023.04.17.23288471
pmc: PMC10168402
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NIA NIH HHS
ID : R01 AG037491
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC014942
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS089757
Pays : United States
Organisme : NINDS NIH HHS
ID : RF1 NS118584
Pays : United States
Déclaration de conflit d'intérêts
M.A.N. and D.V.’s participation in this project was part of a competitive contract awarded to Data Tecnica International LLC by the National Institutes of Health to support open science research. M.A.N. also currently serves on the scientific advisory board for Character Bio Inc. and Neuron23 Inc.