儿童类似脑白质营养不良的表现：一例遗传性痉挛性截瘫35型病例 - Suppr

Leukodystrophy-Like Presentation in a Child: A Case of Hereditary Spastic Paraparesis-35.

作者信息

Sugumar Kiruthiga, Chidambaram Aakash Chandran, Ramamoorthy Jaikumar Govindaswamy, Selvan Tamil

机构信息

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER, Puducherry), India.

出版信息

Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):745-746. doi: 10.4103/aian.aian_120_22. Epub 2022 Mar 25.

DOI:10.4103/aian.aian_120_22

PMID:36211191

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9540954/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c31/9540954/07f833c299d4/AIAN-25-745-g001.jpg

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Leukodystrophy-Like Presentation in a Child: A Case of Hereditary Spastic Paraparesis-35.儿童类似脑白质营养不良的表现：一例遗传性痉挛性截瘫35型病例

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VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.VPS53基因与复杂型遗传性痉挛性截瘫的一种新表型相关。

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Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.伴有痉挛蛋白突变的遗传性痉挛性截瘫患者的后颅窝异常

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Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.成人遗传性痉挛性截瘫与先天性代谢缺陷相关：一种诊断方法。

J Inherit Metab Dis. 2007 Nov;30(6):855-64. doi: 10.1007/s10545-007-0745-1. Epub 2007 Oct 22.

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.影像学无弥漫性脑白质营养不良表现的迟发性脑白质营养不良，酷似遗传性痉挛性截瘫

Neuropsychiatr Dis Treat. 2021 May 12;17:1451-1458. doi: 10.2147/NDT.S296424. eCollection 2021.

Familial spastic paraparesis: a case of a mitochondrial disorder.

Pediatr Neurosurg. 1990;16(1):40-2. doi: 10.1159/000120502.

[A case of spastic paraparesis with mental deterioration and markedly thin corpus callosum--callosal dysfunction demonstrated by magnetic stimulation].[一例伴有精神衰退和胼胝体明显变薄的痉挛性截瘫——磁刺激显示胼胝体功能障碍]

Rinsho Shinkeigaku. 1998 May;38(5):418-22.

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.具有或不具有其他神经系统表现的痉挛性截瘫患者的遗传起源。

BMC Neurol. 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z.

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Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.遗传性痉挛性截瘫的管理：文献系统综述

Front Neurol. 2019 Jan 22;10:3. doi: 10.3389/fneur.2019.00003. eCollection 2019.

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.遗传性痉挛性截瘫的神经影像学：当前应用与未来展望

Front Neurol. 2019 Jan 16;9:1117. doi: 10.3389/fneur.2018.01117. eCollection 2018.

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.

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.由一种新型FA2H突变引起的35型遗传性痉挛性截瘫。

Turk J Pediatr. 2017;59(3):329-334. doi: 10.24953/turkjped.2017.03.016.

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.外显子组测序揭示了一个患有复杂型遗传性痉挛性截瘫和精神障碍的家族中的两个FA2H突变。

J Neurol Sci. 2017 Jan 15;372:347-349. doi: 10.1016/j.jns.2016.11.069. Epub 2016 Dec 5.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.16号染色体单亲二倍体在4个家族中揭示了FA2H/SPG35的隐性突变。

Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17.

Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation.脂肪酸2-羟化酶缺乏症：临床特征与脑铁蓄积

Neurology. 2015 Mar 3;84(9):960-1. doi: 10.1212/WNL.0000000000001316.

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.SPG35导致中国常染色体隐性遗传性痉挛性截瘫的第二常见亚型：FA2H基因突变的频率分析和功能特征

Clin Genet. 2015;87(1):85-9. doi: 10.1111/cge.12336. Epub 2014 Jan 26.

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.一个罕见的遗传性痉挛性截瘫 35 型家系，与新型 FA2H 突变相关：病例报告并文献复习。

J Neurol Sci. 2013 Jun 15;329(1-2):1-5. doi: 10.1016/j.jns.2013.02.026. Epub 2013 Apr 6.

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.脂肪酸2-羟化酶基因突变与伴有痉挛性截瘫和肌张力障碍的脑白质营养不良相关。

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

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Leukodystrophy-Like Presentation in a Child: A Case of Hereditary Spastic Paraparesis-35.

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