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"Ear of the Lynx" Sign in Hereditary Spastic Paraplegia 76.

作者信息

Lee Myung Jun, Park Hyung Jun, Lee Jae Meen, Lee Jae-Hyeok

机构信息

Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea.

Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

出版信息

J Clin Neurol. 2025 Jan;21(1):77-79. doi: 10.3988/jcn.2024.0234.

DOI:10.3988/jcn.2024.0234
PMID:39778570
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11711263/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bd3/11711263/8b01389ea376/jcn-21-77-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bd3/11711263/8b01389ea376/jcn-21-77-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bd3/11711263/8b01389ea376/jcn-21-77-g001.jpg

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本文引用的文献

1
"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76.遗传性痉挛性截瘫（HSP）76中的“猞猁耳”征
Mov Disord Clin Pract. 2022 Nov 17;10(1):120-123. doi: 10.1002/mdc3.13606. eCollection 2023 Jan.
2
The Hot Cross Bun Sign: A Journey Across Etiologies.热十字面包征：病因探寻之旅。
Mov Disord Clin Pract. 2022 Oct 21;9(8):1018-1020. doi: 10.1002/mdc3.13596. eCollection 2022 Nov.
3
"Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers.杂合性SPG11突变携带者MRI上的“猞猁耳”征和胼胝体变薄
J Neurol. 2022 Nov;269(11):6148-6151. doi: 10.1007/s00415-022-11198-5. Epub 2022 May 25.
4
Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.新型 CAPN1 突变扩展了痉挛性截瘫和共济失调合并症的表型异质性。
Ann Clin Transl Neurol. 2020 Oct;7(10):1862-1869. doi: 10.1002/acn3.51169. Epub 2020 Aug 29.
5
and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.遗传性痉挛性截瘫：一个伊朗家系的新变异型及基因型-表型相关性概述。
Int J Neurosci. 2021 Oct;131(10):962-974. doi: 10.1080/00207454.2020.1763344. Epub 2020 May 13.
6
Variants as Cause of Hereditary Spastic Paraplegia Type 76.作为76型遗传性痉挛性截瘫病因的变异体
Case Rep Neurol Med. 2019 Jul 1;2019:7615605. doi: 10.1155/2019/7615605. eCollection 2019.
7
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.“山猫耳”MRI 征与 SPG11 和 SPG15 遗传性痉挛性截瘫相关。
AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.
8
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).ATP13A2/PARK9基因的功能丧失突变会导致复杂型遗传性痉挛性截瘫（SPG78）。
Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
9
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.钙蛋白酶1基因缺陷导致小鼠和人类小脑发育异常及小脑共济失调。
Cell Rep. 2016 Jun 28;16(1):79-91. doi: 10.1016/j.celrep.2016.05.044. Epub 2016 Jun 16.
10
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.钙蛋白酶1基因突变导致常染色体隐性遗传性痉挛性截瘫。
Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002.