Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia

Benjamin Roeben^{1

2}, Eva Bültmann³, Claudia Stendel^{4

5}, Matthis Synofzik^{1

2}

Affiliations

¹ Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
² German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
³ Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
⁴ Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
⁵ German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

Case Reports

Benjamin Roeben et al. Ann Neurol. 2022 Mar.

. 2022 Mar;91(3):438-440.

doi: 10.1002/ana.26311. Epub 2022 Feb 11.

Benjamin Roeben^{1

2}, Eva Bültmann³, Claudia Stendel^{4

5}, Matthis Synofzik^{1

2}

¹ Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
² German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
³ Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
⁴ Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
⁵ German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

No abstract available

References

1. Dautant A, Meier T, Hahn A, et al. ATP synthase diseases of mitochondrial genetic origin. Front Physiol 2018;9:329.
1. Stendel C, Neuhofer C, Floride E, et al. Delineating MT-ATP6-associated disease: from isolated neuropathy to early onset neurodegeneration. Neurol Genet 2020;6:e393.
1. Synofzik M, Schicks J, Wilhelm C, et al. Charcot-Marie-tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. Eur J Neurol 2012;19:e114-e116.
1. Poretti A, Capone A, Hackenberg A, et al. Cerebellar bottom-of-fissure dysplasia-a novel cerebellar gray matter neuroimaging pattern. Cerebellum 2016;15:705-709.