Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Martina Minnerop^{1

2}, Delia Kurzwelly³, Holger Wagner⁴, Rebecca Schüle^{5

6}, Alfredo Ramirez^{4

7}

Affiliations

¹ Institute of Neuroscience and Medicine (INM-1), Research Centre Juelich, Jülich, Germany.
² Center for Movement Disorders and Neuromodulation, Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.
³ Department of Neurology, University of Bonn, Bonn, Germany.
⁴ Division for Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, Cologne, Germany.
⁵ Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
⁶ German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
⁷ Department for Neurodegenerative Diseases and Geriatric Psychiatry, University of Bonn, Bonn, Germany.

Comment

Martina Minnerop et al. Brain. 2019.

. 2019 Apr 1;142(4):e13.

doi: 10.1093/brain/awz042.

Martina Minnerop^{1

2}, Delia Kurzwelly³, Holger Wagner⁴, Rebecca Schüle^{5

6}, Alfredo Ramirez^{4

7}

¹ Institute of Neuroscience and Medicine (INM-1), Research Centre Juelich, Jülich, Germany.
² Center for Movement Disorders and Neuromodulation, Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.
³ Department of Neurology, University of Bonn, Bonn, Germany.
⁴ Division for Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, Cologne, Germany.
⁵ Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
⁶ German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
⁷ Department for Neurodegenerative Diseases and Geriatric Psychiatry, University of Bonn, Bonn, Germany.

No abstract available

Comment on

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK. Rydning SL, et al. Brain. 2019 Apr 1;142(4):e12. doi: 10.1093/brain/awz041. Brain. 2019. PMID: 30847471 Free PMC article. No abstract available.