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

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 protein mo...

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Published in:Ann Clin Transl Neurol
Main Authors: Schmitz‐Hübsch, Tanja, Lux, Silke, Bauer, Peter, Brandt, Alexander U., Schlapakow, Elena, Greschus, Susanne, Scheel, Michael, Gärtner, Hanna, Kirlangic, Mehmet E., Gras, Vincent, Timmann, Dagmar, Synofzik, Matthis, Giorgetti, Alejandro, Carloni, Paolo, Shah, Jon N., Schöls, Ludger, Kopp, Ute, Bußenius, Lisa, Oberwahrenbrock, Timm, Zimmermann, Hanna, Pfueller, Caspar, Kadas, Ella‐Maria, Rönnefarth, Maria, Grosch, Anne‐Sophie, Endres, Matthias, Amunts, Katrin, Paul, Friedemann, Doss, Sarah, Minnerop, Martina
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2021
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Research Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8045942/
https://ncbi.nlm.nih.gov/pubmed/33739604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51315
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