一名德国患者出现全身性肌张力障碍但无共济失调-毛细血管扩张症的典型体征，存在新型ATM突变。 - Suppr

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

作者信息

Kuhm Christoph, Gallenmüller Constanze, Dörk Thilo, Menzel Moritz, Biskup Saskia, Klopstock Thomas

机构信息

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany.

出版信息

J Neurol. 2015 Mar;262(3):768-70. doi: 10.1007/s00415-015-7636-4. Epub 2015 Jan 9.

DOI:10.1007/s00415-015-7636-4

PMID:25572163

Abstract

摘要

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Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.

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Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

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Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Neurology. 2012 Feb 28;78(9):649-57. doi: 10.1212/WNL.0b013e3182494d51. Epub 2012 Feb 15.

Clinical spectrum of ataxia-telangiectasia in adulthood.

Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17.

Molecular pathology of ataxia telangiectasia.

J Clin Pathol. 2005 Oct;58(10):1009-15. doi: 10.1136/jcp.2005.026062.

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):925-30. doi: 10.1073/pnas.012329699.

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

Nature. 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0.

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Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

J Neurol. 2015 Mar;262(3):768-70. doi: 10.1007/s00415-015-7636-4. Epub 2015 Jan 9.

Clinical variability in ataxia-telangiectasia.

J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10.

Novel ATM mutations with ataxia-telangiectasia.

Neurosci Lett. 2016 Jan 12;611:112-5. doi: 10.1016/j.neulet.2015.11.036. Epub 2015 Nov 25.

Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.

Mov Disord. 2018 Aug;33(8):1238-1247. doi: 10.1002/mds.27319. Epub 2018 Feb 13.

Ataxia telangiectasia syndrome: moonlighting ATM.

Expert Rev Clin Immunol. 2017 Dec;13(12):1155-1172. doi: 10.1080/1744666X.2017.1392856. Epub 2017 Oct 20.

A novel mutation in gene in a Saudi female with ataxia telangiectasia.

Int J Neurosci. 2021 Feb;131(2):206-211. doi: 10.1080/00207454.2020.1736582. Epub 2020 Mar 16.

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Neurology. 2012 Feb 28;78(9):649-57. doi: 10.1212/WNL.0b013e3182494d51. Epub 2012 Feb 15.

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Handb Clin Neurol. 2015;132:199-214. doi: 10.1016/B978-0-444-62702-5.00014-7.

Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer.

Biochem Biophys Res Commun. 2014 Oct 3;452(4):901-5. doi: 10.1016/j.bbrc.2014.08.125. Epub 2014 Sep 1.

Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.

Am J Case Rep. 2015 Sep 18;16:631-6. doi: 10.12659/AJCR.893995.

引用本文的文献

Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.

Front Pediatr. 2023 Mar 15;11:975696. doi: 10.3389/fped.2023.975696. eCollection 2023.

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Front Immunol. 2022 Jan 14;12:779502. doi: 10.3389/fimmu.2021.779502. eCollection 2021.

Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.

J Mol Neurosci. 2021 Feb;71(2):325-337. doi: 10.1007/s12031-020-01653-1. Epub 2020 Jul 13.

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Mov Disord Clin Pract. 2020 Apr 6;7(4):383-393. doi: 10.1002/mdc3.12937. eCollection 2020 May.

Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Oman Med J. 2020 Feb 17;35(1):e93. doi: 10.5001/omj.2020.11. eCollection 2020 Jan.

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Front Neurol. 2019 Dec 18;10:1332. doi: 10.3389/fneur.2019.01332. eCollection 2019.

Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene mutation identified in a Chinese pedigree with A‑T.

Mol Med Rep. 2019 Aug;20(2):1655-1662. doi: 10.3892/mmr.2019.10402. Epub 2019 Jun 20.

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Tremor Other Hyperkinet Mov (N Y). 2016 Jul 16;6:368. doi: 10.7916/D8H70FSS. eCollection 2016.

Recent advances in genetics of chorea.

Curr Opin Neurol. 2016 Aug;29(4):486-95. doi: 10.1097/WCO.0000000000000352.

本文引用的文献

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Neurology. 2013 Sep 24;81(13):1148-51. doi: 10.1212/WNL.0b013e3182a55fa2. Epub 2013 Aug 14.

Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

Mov Disord. 2013 Nov;28(13):1897-9. doi: 10.1002/mds.25487. Epub 2013 May 2.

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Neurology. 2012 Feb 28;78(9):649-57. doi: 10.1212/WNL.0b013e3182494d51. Epub 2012 Feb 15.

Clinical spectrum of ataxia-telangiectasia in adulthood.

Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17.

Molecular pathology of ataxia telangiectasia.

J Clin Pathol. 2005 Oct;58(10):1009-15. doi: 10.1136/jcp.2005.026062.

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):925-30. doi: 10.1073/pnas.012329699.

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

Nature. 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0.

Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

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Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.

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