학술논문
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
Document Type
Article
Author
Parodi, Livia; Barbier, Mathieu; Jacoupy, Maxime; Pujol, Claire; Lejeune, François-Xavier; Lallemant-Dudek, Pauline; Esteves, Typhaine; Pennings, Maartje; Kamsteeg, Erik-Jan; Guillaud-Bataille, Marine; Banneau, Guillaume; Coarelli, Giulia; Oumoussa, Badreddine Mohand; Fraidakis, Matthew J.; Stevanin, Giovanni; Depienne, Christel; van de Warrenburg, Bart; Brice, Alexis; Durr, Alexandra
Source
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2308-2317, 10p
Subject
Language
ISSN
10983600; 15300366
Abstract
Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influences microtubule dynamics, are associated with earlier onset and more severe disease than truncating variants, but even within the early and late-onset groups there remained significant differences in onset. Given the rarity of the condition, we adapted an extreme phenotype approach to identify genetic modifiers of onset.