Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin,Movement Disorders

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Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin
Movement Disorders ( IF 8.6 ) Pub Date : 2022-06-14 , DOI: 10.1002/mds.29071
Isabell Cordts ₁ , Demet Önder _{2,

3} , Andreas Traschütz _{4,

5} , Xenia Kobeleva _{2,

3} , Ivan Karin ₆ , Martina Minnerop _{7,

8,

9} , Peter Koertvelyessy ₁₀ , Saskia Biskup ₁₁ , Stephan Forchhammer ₁₂ , Johannes Binder ₁₃ , Andreas Tzschach ₁₄ , Frank Meiss ₁₅ , Axel Schmidt ₁₆ , Martina Kreiß ₁₆ , Kirsten Cremer ₁₆ , Martin A Mensah _{17,

18} , Joohyun Park ₁₉ , Maren Rautenberg ₁₉ , Natalie Deininger ₁₉ , Marc Sturm ₁₉ , Paul Lingor ₁ , Thomas Klopstock _{6,

20,

21} , Markus Weiler ₂₂ , Franz Marxreiter _{23,

24} , Matthis Synofzik _{4,

5} , Christian Posch _{25,

26} , Judith Sirokay ₂₇ , Thomas Klockgether _{2,

3} , Tobias B Haack _{19,

28} , Marcus Deschauer ₁

Affiliation

Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Department of Neurology, University Hospital Bonn, Bonn, Germany.
German Center for Neurodegenerative Diseases, Bonn, Germany.
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
German Center for Neurodegenerative Diseases, Tübingen, Germany.
Friedrich-Baur-Institute, Department of Neurology, University Hospital of the Ludwig-Maximilians-University (LMU) Munich, Munich, Germany.
Institute of Neuroscience and Medicine, Research Centre Jülich, Jülich, Germany.
Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Department of Neurology, Campus Benjamin Franklin, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
CeGaT GmbH und Praxis für Humangenetik Tübingen, Tübingen, Germany.
Division of Dermatooncology, Department of Dermatology, University of Tübingen, Tübingen, Germany.
Zentrum für Nervenheilkunde, Herbolzheim, Germany.
Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Department of Dermatology and Venereology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Germany.
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
German Center for Neurodegenerative Diseases, Munich, Germany.
Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Center for Rare Diseases (ZSEER), University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Department of Dermatology and Allergy, School of Medicine, German Cancer Consortium, Technical University of Munich, Munich, Germany.
Faculty of Medicine, Sigmund Freud University Vienna, Vienna, Austria.
Department of Dermatology and Allergy, University Hospital Bonn, Bonn, Germany.
Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.

Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest with photosensitivity and skin cancer, but also developmental delay and early-onset neurological degeneration. Adult-onset neurological features have been reported in only a few xeroderma pigmentosum cases, all showing at least mild skin manifestations.

中文翻译：

核苷酸切除修复障碍 (NERDND) 中的成人发病神经变性：是时候超越皮肤了

核苷酸切除修复 (NER) 通路的基因变异与异质性临床表现相关，从着色性干皮病到 Cockayne 综合征和毛硫营养不良。NER 缺陷表现为光敏性和皮肤癌，还有发育迟缓和早发性神经退化。只有少数着色性干皮病病例报告了成人发病的神经系统特征，所有病例都至少表现出轻微的皮肤表现。

更新日期：2022-06-14

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