成人起病的肌张力障碍合并迟发性癫痫与相关的低髓鞘性脑白质营养不良——一种新的中间表型 - Suppr

Adult-Onset Dystonia with Late-Onset Epilepsy in -Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype.

作者信息

Sarkar Peyalee, Mukherjee Adreesh, Sarkar Sumanta, Agrawal Raju, Dubey Souvik, Pandit Alak

机构信息

Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.

出版信息

Ann Indian Acad Neurol. 2022 May-Jun;25(3):562-565. doi: 10.4103/aian.aian_952_21. Epub 2022 Apr 20.

DOI:10.4103/aian.aian_952_21

PMID:35936629

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9350765/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d26/9350765/e6bc4198c602/AIAN-25-562-g001.jpg

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Adult-Onset Dystonia with Late-Onset Epilepsy in -Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype.成人起病的肌张力障碍合并迟发性癫痫与相关的低髓鞘性脑白质营养不良——一种新的中间表型

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Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.扩展 TUBB4A 相关的脑白质营养不良伴少突胶质细胞发育不良的表型谱。

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Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties.关于低髓鞘性脑白质营养不良6（HLD6）相关突变对TUBB4A特性影响的数据。

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[A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A () gene and literature review].[一例由微管蛋白β4A（）基因新发突变引起的伴有基底节和小脑萎缩的非典型低髓鞘性脑白质营养不良报告及文献复习]

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本文引用的文献

Hum Genome Var. 2017 Aug 3;4:17035. doi: 10.1038/hgv.2017.35. eCollection 2017.

Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28.

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?H-ABC 综合征与 DYT4：TUBB4 突变的表现度可变还是多效性？

Mov Disord. 2015 May;30(6):828-33. doi: 10.1002/mds.26129. Epub 2014 Dec 27.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.伴有基底神经节和小脑萎缩的髓鞘形成不良：对表型及基因型-表型相关性的进一步描述

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).新型TUBB4A突变与基底神经节和小脑萎缩性低髓鞘症（H-ABC）神经影像学表型的扩展

Am J Med Genet A. 2014 Jul;164A(7):1802-7. doi: 10.1002/ajmg.a.36526. Epub 2014 Apr 4.

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.TUBB4A相关疾病谱的扩展：一种与TUBB4A基因新突变相关的新表型。

Neurogenetics. 2014 May;15(2):107-13. doi: 10.1007/s10048-014-0392-2. Epub 2014 Feb 14.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.发声低语困难（DYT4 型肌张力障碍）是由 TUBB4 基因突变引起的。

Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17.

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.一个新出现的β-微管蛋白基因 TUBB4A 突变导致脑白质营养不良伴基底节和小脑萎缩。

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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.β-微管蛋白 4a 自动调节域的突变导致遗传性张力障碍。

Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19.

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Adult-Onset Dystonia with Late-Onset Epilepsy in -Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype.

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