扩大与钙蛋白酶1相关突变的临床表型：一例先天性起病的单纯性痉挛性截瘫新病例。 - Suppr

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

作者信息

Travaglini Lorena, Bellacchio Emanuele, Aiello Chiara, Pro Stefano, Bertini Enrico, Nicita Francesco

机构信息

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

出版信息

J Neurol Sci. 2017 Jul 15;378:210-212. doi: 10.1016/j.jns.2017.05.014. Epub 2017 May 10.

DOI:10.1016/j.jns.2017.05.014

PMID:28566166

Abstract

摘要

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Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.扩大与钙蛋白酶1相关突变的临床表型：一例先天性起病的单纯性痉挛性截瘫新病例。

J Neurol Sci. 2017 Jul 15;378:210-212. doi: 10.1016/j.jns.2017.05.014. Epub 2017 May 10.

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.两例中国遗传性痉挛性截瘫患者 CAPN1 基因的新型纯合突变及文献复习

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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。

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CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.钙蛋白酶1（CAPN1）突变：扩展与钙蛋白酶1相关的表型：从遗传性痉挛性截瘫到痉挛性共济失调。

Eur J Med Genet. 2019 Dec;62(12):103605. doi: 10.1016/j.ejmg.2018.12.010. Epub 2018 Dec 17.

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.中国痉挛性截瘫及相关神经退行性疾病患者中钙蛋白酶1（CAPN1）的突变分析

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Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.伴有小脑共济失调的遗传性痉挛性截瘫：一种与新的SPG4基因突变相关的复杂表型。

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Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.三位伊朗遗传性痉挛性截瘫（HSP）罕见亚型患者：SPG76、SPG56 和 SPG69。

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White matter abnormalities in 15 subjects with SPG76.SPG76 患者 15 例的脑白质异常。

J Neurol. 2023 Dec;270(12):5784-5792. doi: 10.1007/s00415-023-11918-5. Epub 2023 Aug 14.

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.痉挛性截瘫 76 型：三例新 CAPN1 突变病例报告并文献复习。

Neurogenetics. 2023 Oct;24(4):243-250. doi: 10.1007/s10048-023-00726-8. Epub 2023 Jul 19.

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Ann Clin Transl Neurol. 2022 Apr;9(4):570-576. doi: 10.1002/acn3.51531. Epub 2022 Mar 16.

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.RCL1 拷贝数变异与一系列神经精神表型相关。

Mol Psychiatry. 2021 May;26(5):1706-1718. doi: 10.1038/s41380-021-01035-y. Epub 2021 Feb 17.

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.CAPN1 变异体在痉挛性共济失调中的作用增加及表型-基因型相关性。

Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23.

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.

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.中国隐性遗传性痉挛性截瘫患者的临床特征及基因谱

Transl Neurodegener. 2019 Jun 26;8:19. doi: 10.1186/s40035-019-0157-9. eCollection 2019.

A Novel Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.一种新的突变导致一个意大利家族出现单纯型遗传性痉挛性截瘫。

Front Neurol. 2019 Jun 5;10:580. doi: 10.3389/fneur.2019.00580. eCollection 2019.

Orphanet J Rare Dis. 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1.

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Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.

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