A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report

Neurol Sci. 2023 May;44(5):1795-1797. doi: 10.1007/s10072-022-06546-2. Epub 2023 Jan 6.

Quentin Thomas^{1

2

3}, Antonio Vitobello^{4

5}, Agnès Fromont⁶, Christophe Philippe^{4

5}, Christel Thauvin-Robinet^{4

7

5}

¹ Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, Besançon, France. [email protected].
² Genetics Center, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21000, Dijon, France. [email protected].
³ Neurology Department, Dijon Bourgogne University Hospital, 21000, Dijon, France. [email protected].
⁴ Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, Besançon, France.
⁵ Functional Unity of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.
⁶ Neurology Department, Dijon Bourgogne University Hospital, 21000, Dijon, France.
⁷ Genetics Center, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21000, Dijon, France.

No abstract available

Publication types