Variable Age at Onset in AOPEP-Associated Dystonia

Martina Minnerop^{1

2

3}, Barbara Leube⁴, Alisha Reinhardt³, Tristan Kölsche⁵, John-Ih Lee⁵, Cornelia Blank⁴, Alfons Schnitzler^{2

3}

Affiliations

¹ Institute of Neuroscience and Medicine (INM-1), Research Center Jülich, Jülich, Germany.
² Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
³ Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
⁴ Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
⁵ Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

Martina Minnerop et al. Mov Disord. 2023 Dec.

. 2023 Dec;38(12):2318-2319.

doi: 10.1002/mds.29629.

Martina Minnerop^{1

2

3}, Barbara Leube⁴, Alisha Reinhardt³, Tristan Kölsche⁵, John-Ih Lee⁵, Cornelia Blank⁴, Alfons Schnitzler^{2

3}

¹ Institute of Neuroscience and Medicine (INM-1), Research Center Jülich, Jülich, Germany.
² Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
³ Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
⁴ Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
⁵ Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

No abstract available

References

1. Menden B, Gutschalk A, Wunderlich G, Haack TB. Expanded genetic Spectrum and variable disease onset in AOPEP-associated dystonia. Mov Disord 2022;37(5):1113-1115.
1. Zech M, Kumar KR, Reining S, et al. Biallelic AOPEP loss- of-function variants cause progressive dystonia with prominent limb involvement. Mov Disord 2022;37(1):137-147.
1. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42(Database issue):D980-D985.
1. Lin J, Li C, Cui Y, et al. Mutation screening of AOPEP variants in a large dystonia cohort. J Neurol 2023;270(6):3225-3233.
1. Garavaglia B, Vallian S, Romito LM, et al. AOPEP variants as a novel cause of recessive dystonia: generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord 2022;97:52-56.