两名携带新型FA2H突变的患者出现非典型成人起病的复杂痉挛性截瘫并伴有胼胝体变薄。 - Suppr

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

作者信息

Tonelli A, D'Angelo M G, Arrigoni F, Brighina E, Arnoldi A, Citterio A, Bresolin N, Bassi M T

出版信息

Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27.

DOI:10.1111/j.1468-1331.2012.03838.x

PMID:22925154

Abstract

摘要

相似文献

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27.

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.

Clin Genet. 2015 Jul;88(1):95-7. doi: 10.1111/cge.12516. Epub 2014 Dec 11.

SPG11 compound mutations in spastic paraparesis with thin corpus callosum.

Neurology. 2008 Jul 29;71(5):332-6. doi: 10.1212/01.wnl.0000319646.23052.d1.

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

Neurodegener Dis. 2018;18(2-3):156-164. doi: 10.1159/000490248. Epub 2018 Jul 2.

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010.

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28.

Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.

J Neuroimaging. 2009 Jan;19(1):52-60. doi: 10.1111/j.1552-6569.2008.00327.x. Epub 2008 Nov 21.

Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.

J Child Neurol. 2000 Apr;15(4):239-43. doi: 10.1177/088307380001500407.

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Brain. 2003 Apr;126(Pt 4):783-91. doi: 10.1093/brain/awg084.

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Neurosci Lett. 2004 Sep 30;368(3):319-22. doi: 10.1016/j.neulet.2004.07.057.

引用本文的文献

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

Genes (Basel). 2023 Dec 20;15(1):14. doi: 10.3390/genes15010014.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.

Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.

Mov Disord Clin Pract. 2015 Feb 18;2(1):56-60. doi: 10.1002/mdc3.12118. eCollection 2015 Mar.

Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.

Ann Indian Acad Neurol. 2018 Oct-Dec;21(4):335-339. doi: 10.4103/aian.AIAN_106_18.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Neurogenetics. 2018 May;19(2):123-130. doi: 10.1007/s10048-018-0538-8. Epub 2018 Feb 8.

Whole genome methylation analyses of schizophrenia patients before and after treatment.

Biotechnol Biotechnol Equip. 2014 May 4;28(3):518-524. doi: 10.1080/13102818.2014.933501. Epub 2014 Aug 26.

Human genetic disorders of sphingolipid biosynthesis.

J Inherit Metab Dis. 2015 Jan;38(1):65-76. doi: 10.1007/s10545-014-9736-1. Epub 2014 Aug 21.

Heterozygous FA2H mutations in autism spectrum disorders.

BMC Med Genet. 2013 Dec 3;14:124. doi: 10.1186/1471-2350-14-124.

2'-Hydroxy ceramide in membrane homeostasis and cell signaling.

Adv Biol Regul. 2014 Jan;54:223-30. doi: 10.1016/j.jbior.2013.09.012. Epub 2013 Oct 8.

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.

Clin Genet. 2014 Apr;85(4):393-5. doi: 10.1111/cge.12185. Epub 2013 Jun 10.

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

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献