伴有球部受累的婴儿期起病的上行性痉挛性麻痹患者中，首次发现ALS2基因复合杂合性病例。 - Suppr

Suppr

超能文献

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.

作者信息

Sztriha L, Panzeri C, Kálmánchey R, Szabó N, Endreffy E, Túri S, Baschirotto C, Bresolin N, Vekerdy Z, Bassi M T

出版信息

Clin Genet. 2008 Jun;73(6):591-3. doi: 10.1111/j.1399-0004.2008.00993.x. Epub 2008 Apr 2.

DOI:10.1111/j.1399-0004.2008.00993.x

PMID:18394004

Abstract

摘要

相似文献

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.

Clin Genet. 2008 Jun;73(6):591-3. doi: 10.1111/j.1399-0004.2008.00993.x. Epub 2008 Apr 2.

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

Eur J Hum Genet. 2008 Nov;16(11):1407-11. doi: 10.1038/ejhg.2008.108. Epub 2008 Jun 4.

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.

J Neurogenet. 2017 Mar-Jun;31(1-2):26-29. doi: 10.1080/01677063.2017.1324441. Epub 2017 May 13.

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.

Infantile onset ascending hereditary spastic paralysis.

BMJ Case Rep. 2022 Jan 17;15(1):e240941. doi: 10.1136/bcr-2020-240941.

[Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration].

Rinsho Shinkeigaku. 2004 Nov;44(11):792-4.

[On first manifestations of spastic spinal paralysis in old age].

Nervenarzt. 1961 Apr;32:183-6.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11.

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9.

引用本文的文献

Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.

BMC Med Genomics. 2024 Jan 31;17(1):44. doi: 10.1186/s12920-024-01805-x.

Biology (Basel). 2022 Jan 5;11(1):77. doi: 10.3390/biology11010077.

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.

Front Genet. 2019 Aug 16;10:732. doi: 10.3389/fgene.2019.00732. eCollection 2019.

Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

J Biol Chem. 2018 Nov 2;293(44):17135-17153. doi: 10.1074/jbc.RA118.003849. Epub 2018 Sep 17.

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21.

The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.

Front Cell Neurosci. 2014 Sep 10;8:282. doi: 10.3389/fncel.2014.00282. eCollection 2014.

Case Rep Genet. 2014;2014:691515. doi: 10.1155/2014/691515. Epub 2014 Sep 14.

Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.

PLoS One. 2010 Mar 22;5(3):e9805. doi: 10.1371/journal.pone.0009805.

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

Neurogenetics. 2009 Feb;10(1):59-64. doi: 10.1007/s10048-008-0148-y. Epub 2008 Sep 23.

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