Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Jun 4;149(1):58.
doi: 10.1007/s00401-025-02898-z.

Multifactorial etiology of progressive supranuclear palsy (PSP): the genetic component

Ulrich Müller  1   2 , Günter Höglinger  3 , Dennis W Dickson  4
Affiliations
Review

Multifactorial etiology of progressive supranuclear palsy (PSP): the genetic component

Ulrich Müller et al. Acta Neuropathol. .

Abstract

Progressive supranuclear palsy (PSP) is mainly a sporadic disease. It has a multifactorial etiology and an interaction between environmental and genetic factors causes disease. While elucidation of environmental risks for PSP is still in its infancy, much has been learned about the genetic etiological component of PSP during the past few years. This article reviews genes that convey risk for PSP. All genes have been identified in association studies. Only those genes with the standard threshold for genome-wide significance of P < 5E-8 are covered. These genes include MAPT, KANSL1, PLEKHM1, STX6, MOBP, EIF2AK3, SLC01 A2, DUSP10, APOE, RUNX2, TRIM11, NFASC/CNTN2 and LRRK2. The physiologic function of these genes is described and their potential role in the etiology of PSP is discussed.

PubMed Disclaimer

Conflict of interest statement

Declarations. Conflict of interest: The authors declare no conflict of interests.

Figures

Fig. 1
Fig. 1
MAPT region in 17q21.31. Genes discussed in this article are indicated by arrows and their DNA coordinates are given. (adapted from the UCSC Genome Browser at http://genome.ucsc.edu)
See this image and copyright information in PMC

References

    1. Agarwal S, Gilbert R (2023) Progressive Supranuclear Palsy. [Updated 2023 Mar 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK526098/ - PubMed
    1. Alessi DR, Sammler E (2018) LRRK2 kinase in Parkinson’s disease. Science. 10.1126/science.aar5683 - PubMed
    1. Allen M, Burgess JD, Ballard T, Serie D, Wang X, Younkin CS et al (2016) Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci. Acta Neuropath. 10.1007/s00401-016-1576-7 - PMC - PubMed
    1. Alster P, Madetko N, Koziorowski D, Friedman A (2020) Microglial activation and inflammation as a factor in the pathogenesis of Progressive Supranuclear Palsy (PSP). Front Neurosci. 10.3389/fnins.2020.00893 - PMC - PubMed
    1. Amlie-Wolf A, Kuksa PP, Lee CY, Mlynarski E, Leung YY, Wang LS (2021) Using INFERNO to infer the molecular mechanisms underlying noncoding genetic associations. Methods Mol Biol. 10.1007/978-1-0716-1158-6_6 - PubMed

Publication types

MeSH terms

LinkOut - more resources