Article
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2022
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
Abstract excerpt
PURPOSE: 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...
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