Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

Abstract Objectives Genetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including pr...

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Main Authors: Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander U. Brandt, Elena Schlapakow, Susanne Greschus, Michael Scheel, Hanna Gärtner, Mehmet E. Kirlangic, Vincent Gras, Dagmar Timmann, Matthis Synofzik, Alejandro Giorgetti, Paolo Carloni, Jon N. Shah, Ludger Schöls, Ute Kopp, Lisa Bußenius, Timm Oberwahrenbrock, Hanna Zimmermann, Caspar Pfueller, Ella‐Maria Kadas, Maria Rönnefarth, Anne‐Sophie Grosch, Matthias Endres, Katrin Amunts, Friedemann Paul, Sarah Doss, Martina Minnerop
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51315

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