Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa

Affiliations

• ¹ Department of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
• ² Department of Neurology, FAU, Erlangen, Germany.
• ³ Department of Stem Cell Biology, FAU, Erlangen, Germany.
• ⁴ Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany.
• ⁵ Department of Ophthalmology, FAU, Erlangen, Germany.
• ⁶ Department of Neuroradiology, FAU, Erlangen, Germany.
• ⁷ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
• ⁸ Department of Neurology, University of Regensburg, Regensburg, Germany.