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

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本文引用的文献

1
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.
2
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.
3
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.
4
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.
5
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.
6
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.
7
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.
8
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.
9
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.
10
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.