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

作者信息

Donkervoort S, Dastgir J, Hu Y, Zein W M, Marks H, Blackstone C, Bönnemann C G

机构信息

Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

出版信息

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

DOI:10.1111/cge.12185
PMID:23745665
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5030767/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05ab/5030767/29dbdbfec708/nihms484168f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05ab/5030767/29dbdbfec708/nihms484168f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05ab/5030767/29dbdbfec708/nihms484168f1.jpg

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本文引用的文献

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Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?FA2H相关神经退行性变中的新突变：一种未被充分认识的疾病？
J Child Neurol. 2013 Nov;28(11):1500-1504. doi: 10.1177/0883073812458538. Epub 2012 Sep 10.
2
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.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。
Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27.
3
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
MLKL 缺陷患者的一种新型神经退行性疾病谱障碍。
Cell Death Dis. 2020 May 1;11(5):303. doi: 10.1038/s41419-020-2494-0.
4
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.Fahn/SPG35：疾病分类间狭窄的表型谱。
Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.
5
Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.脑铁沉积不是/SPG35的主要特征。
Mov Disord Clin Pract. 2015 Feb 18;2(1):56-60. doi: 10.1002/mdc3.12118. eCollection 2015 Mar.
6
Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.伴有脂肪酸2-羟化酶基因新突变的35型遗传性痉挛性截瘫及临床特征文献综述
Ann Indian Acad Neurol. 2018 Oct-Dec;21(4):335-339. doi: 10.4103/aian.AIAN_106_18.
7
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.常染色体隐性痉挛性截瘫 35 型（SPG35）的临床和神经影像学特征：病例报告、新突变及文献复习。
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Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).FA2H 缺陷导致一种新型的伴有脑铁蓄积的神经退行性变（NBIA）。
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