Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Mathieu Barbier Melanie Bahlo Alessandra Pennisi Maxime Jacoupy Rick M TankardClaire EwenczykKayli C DaviesPatricia Lino-Coulon Claire Colace Haloom RafehiNicolas AugerBrendan Robert E AnsellIvo van der SteltKatherine B HowellMarie CoutelierDavid J AmorEmeline MundwillerLena Guillot-NoëlElsdon StoreyR J McKinlay GardnerMathew J Wallis Alfredo Brusco Olga Corti Agnes Rotig Richard J Leventer Alexis BriceMartin B DelatyckiGiovanni Stevanin Paul J Lockhart Alexandra Dürr

Published in: Annals of neurology (2022)

This study identifies PNPT1 as a new SCA gene, responsible for SCA25, and highlights biological links between alterations of mtRNA trafficking, interferonopathies and ataxia. ANN NEUROL 2022;92:122-137.

Keyphrases

early onset
copy number
genome wide
neural network