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

Quentin Thomas^{1

2

3}, Antonio Vitobello^{4

5}, Agnès Fromont⁶, Christophe Philippe^{4

5}, Christel Thauvin-Robinet^{4

7

5}

Affiliations

¹ Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, Besançon, France. quentin.thomas@chu-dijon.fr.
² Genetics Center, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21000, Dijon, France. quentin.thomas@chu-dijon.fr.
³ Neurology Department, Dijon Bourgogne University Hospital, 21000, Dijon, France. quentin.thomas@chu-dijon.fr.
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.

Case Reports

Quentin Thomas et al. Neurol Sci. 2023 May.

. 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. quentin.thomas@chu-dijon.fr.
² Genetics Center, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21000, Dijon, France. quentin.thomas@chu-dijon.fr.
³ Neurology Department, Dijon Bourgogne University Hospital, 21000, Dijon, France. quentin.thomas@chu-dijon.fr.
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

References

1. Thomas Q, Vitobello A, Tran Mau-Them F, et al (2020) High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Journal of Medical Genetics 1–8. https://doi.org/10.1136/jmedgenet-2020-107369
1. Posey JE, Harel T, Liu P et al (2017) Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med 376:21–31. https://doi.org/10.1056/NEJMoa1516767 - DOI - PubMed
1. Zheng Y, Peng Y, Zhang S, et al (2019) Capillary malformation–arteriovenous malformation combined alagille syndrome in a patient with double gene variations of RASA1 and NOTCH2. Frontiers in Genetics 10. https://doi.org/10.3389/fgene.2019.01088
1. Hsieh PC, Wang CC, Tsai CL, et al (2019) POLG R964C and GBA L444P mutations in familial Parkinson’s disease: case report and literature review. Brain and Behavior 9:1–7. https://doi.org/10.1002/brb3.1281
1. Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A et al (2019) A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. Seizure 71:161–165. https://doi.org/10.1016/j.seizure.2019.07.019 - DOI - PubMed