与CACNA1B相关的肌张力障碍的全身性肌张力障碍表现及其对左旋多巴的反应。 - Suppr

Suppr

超能文献

Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.

作者信息

Krishnaveni V, Ganaraja V H, Mala Kavya, Kodapala Suresha

机构信息

Department of Neurology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India.

出版信息

Acta Neurol Belg. 2023 Aug;123(4):1537-1539. doi: 10.1007/s13760-022-01988-z. Epub 2022 Jun 13.

DOI:10.1007/s13760-022-01988-z

PMID:35698023

Abstract

摘要

相似文献

Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.

Acta Neurol Belg. 2023 Aug;123(4):1537-1539. doi: 10.1007/s13760-022-01988-z. Epub 2022 Jun 13.

Dopa-responsive dystonia and paroxysmal dystonic attacks associated with gene variant.

Pract Neurol. 2024 Jul 16;24(4):326-328. doi: 10.1136/pn-2023-004045.

Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.

Mov Disord Clin Pract. 2024 Aug;11 Suppl 2(Suppl 2):S8-S10. doi: 10.1002/mdc3.13963. Epub 2024 Jan 20.

NR4A2 and Dystonia with Dopa Responsiveness.

Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21.

A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.

Tremor Other Hyperkinet Mov (N Y). 2021 Jun 24;11:23. doi: 10.5334/tohm.619.

Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).

Brain Dev. 2009 Feb;31(2):173-5. doi: 10.1016/j.braindev.2008.05.012. Epub 2008 Jul 14.

Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.

Mov Disord. 2018 Apr;33(4):656-657. doi: 10.1002/mds.27320. Epub 2018 Feb 13.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Parkinsonism Relat Disord. 2024 Jul;124:107012. doi: 10.1016/j.parkreldis.2024.107012. Epub 2024 May 16.

CACNA1B gene variants in adult-onset isolated focal dystonia.

Neurol Sci. 2021 Mar;42(3):1113-1117. doi: 10.1007/s10072-020-04778-8. Epub 2020 Oct 13.

Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.

Parkinsonism Relat Disord. 2015 Dec;21(12):1441-7. doi: 10.1016/j.parkreldis.2015.10.016. Epub 2015 Oct 30.

本文引用的文献

CACNA1B gene variants in adult-onset isolated focal dystonia.

Neurol Sci. 2021 Mar;42(3):1113-1117. doi: 10.1007/s10072-020-04778-8. Epub 2020 Oct 13.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

J Korean Med Sci. 2018 May 24;33(28):e184. doi: 10.3346/jkms.2018.33.e184. eCollection 2018 Jul 9.

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.

Mov Disord. 2016 Apr;31(4):471-7. doi: 10.1002/mds.26600. Epub 2016 Mar 17.

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

Hum Mol Genet. 2015 Sep 15;24(18):5326-9. doi: 10.1093/hmg/ddv255. Epub 2015 Jul 8.

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8.

The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population.

Hereditas. 2010 Dec;147(6):313-9. doi: 10.1111/j.1601-5223.2009.02115.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa.

Acta Neurol Belg. 2023 Aug;123(4):1537-1539. doi: 10.1007/s13760-022-01988-z. Epub 2022 Jun 13.

Dopa-responsive dystonia and paroxysmal dystonic attacks associated with gene variant.

Pract Neurol. 2024 Jul 16;24(4):326-328. doi: 10.1136/pn-2023-004045.

Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.

Mov Disord Clin Pract. 2024 Aug;11 Suppl 2(Suppl 2):S8-S10. doi: 10.1002/mdc3.13963. Epub 2024 Jan 20.

NR4A2 and Dystonia with Dopa Responsiveness.

Mov Disord. 2021 Sep;36(9):2203-2204. doi: 10.1002/mds.28701. Epub 2021 Jun 21.

A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.

Tremor Other Hyperkinet Mov (N Y). 2021 Jun 24;11:23. doi: 10.5334/tohm.619.

Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).

Brain Dev. 2009 Feb;31(2):173-5. doi: 10.1016/j.braindev.2008.05.012. Epub 2008 Jul 14.

Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.

Mov Disord. 2018 Apr;33(4):656-657. doi: 10.1002/mds.27320. Epub 2018 Feb 13.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Parkinsonism Relat Disord. 2024 Jul;124:107012. doi: 10.1016/j.parkreldis.2024.107012. Epub 2024 May 16.

CACNA1B gene variants in adult-onset isolated focal dystonia.

Neurol Sci. 2021 Mar;42(3):1113-1117. doi: 10.1007/s10072-020-04778-8. Epub 2020 Oct 13.

Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.

Parkinsonism Relat Disord. 2015 Dec;21(12):1441-7. doi: 10.1016/j.parkreldis.2015.10.016. Epub 2015 Oct 30.

本文引用的文献

CACNA1B gene variants in adult-onset isolated focal dystonia.

Neurol Sci. 2021 Mar;42(3):1113-1117. doi: 10.1007/s10072-020-04778-8. Epub 2020 Oct 13.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

J Korean Med Sci. 2018 May 24;33(28):e184. doi: 10.3346/jkms.2018.33.e184. eCollection 2018 Jul 9.

Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.

Mov Disord. 2016 Apr;31(4):471-7. doi: 10.1002/mds.26600. Epub 2016 Mar 17.

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

Hum Mol Genet. 2015 Sep 15;24(18):5326-9. doi: 10.1093/hmg/ddv255. Epub 2015 Jul 8.

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8.

The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population.

Hereditas. 2010 Dec;147(6):313-9. doi: 10.1111/j.1601-5223.2009.02115.x.