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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.

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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

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