Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

doi:10.1016/j.neurobiolaging.2018.02.011

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Article

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

Neurobiology of aging - 1 Jun 2018

Philtjens Stéphanie, Van Mossevelde Sara, van der Zee Julie, Wauters Eline, Dillen Lubina, Vandenbulcke Mathieu, Vandenberghe Rik, Ivanoiu Adrian, Sieben Anne, Willems Christiana, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Borroni Barbara, Padovani Alessandro, Pastor Pau, Diez-Fairen Monica, Aguilar Miquel, de Mendonça Alexandre, Miltenberger-Miltényi Gabriel, Hernández Isabel, Boada Merce, Ruiz Agustín, Nacmias Benedetta, Sorbi Sandro, Almeida Maria Rosário, Santana Isabel, Clarimón Jordi, Lleó Alberto, Frisoni Giovanni B, Sanchez-Valle Raquel, Lladó Albert, Gómez-Tortosa Estrella, Gelpi Ellen, Van den Broeck Marleen, Peeters Karin, Cras Patrick, De Deyn Peter P, Engelborghs Sebastiaan, Cruts Marc, Van Broeckhoven Christine

Abstract excerpt

We investigated the genetic role of sortilin (SORT1) in frontotemporal dementia (FTD). SORT1 is the neuronal receptor for granulin, encoded by the progranulin gene (GRN), a major causal gene for inherited FTD. In Belgian cohorts of 636 FTD patients and 1066 unaffected control individuals, we identified 5 patient-only nonsynonymous rare variants in SORT1. Rare variant burden analysis showed a significant increase...

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Identifiers

PMID: 29555433
DOI: 10.1016/j.neurobiolaging.2018.02.011

Genes

SORT1
GRN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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