Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
作者信息
Park Joohyun, Deininger Natalie, Rautenberg Maren, Saft Carsten, Harmuth Florian, Sturm Marc, Riess Olaf, Schöls Ludger, Synofzik Matthis, Haack Tobias B
机构信息
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Department of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.
出版信息
Genet Med. 2021 Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9.
Abstract
摘要
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2
Heterozygous missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.杂合错义变异会导致共济失调、认知衰退和 STUB1 定位错误。
Neurol Genet. 2020 Feb 10;6(2):1-13. doi: 10.1212/NXG.0000000000000397. eCollection 2020 Apr.
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The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.8 个不相关意大利家系中脊髓小脑共济失调 48 型的复杂表型。
Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1.
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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.STUB1/CHIP突变作为广泛的多系统神经退行性变的一部分导致戈登·霍姆斯综合征：来自四个新突变的证据。
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