由于 -1 中一个新发致病变异导致的痉挛性截瘫和认知障碍 - Suppr

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in -1.

作者信息

Muñoz Esteban, Jodar Meritxell, Guerrero Jairo, Compta Yaroslau, Perissinotti Andrés, Álvarez-Mora Maria I, Falgàs Neus, Rodríguez-Revenga Laia, Sánchez-Valle Raquel

机构信息

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), European Reference Network-Rare Neurological Diseases (ERN-RND) University of Barcelona Barcelona Catalonia Spain.

Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) University of Barcelona Barcelona Catalonia Spain.

出版信息

Mov Disord Clin Pract. 2022 Oct 23;10(1):148-150. doi: 10.1002/mdc3.13588. eCollection 2023 Jan.

DOI:10.1002/mdc3.13588

PMID:36699002

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9847302/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d011/9847302/b667bd1ae750/MDC3-10-148-g001.jpg

相似文献

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in -1.

Mov Disord Clin Pract. 2022 Oct 23;10(1):148-150. doi: 10.1002/mdc3.13588. eCollection 2023 Jan.

Very Early-Onset Alzheimer's Disease in the Third Decade of Life with de novo PSEN1 Mutations.

J Alzheimers Dis. 2022;85(1):65-71. doi: 10.3233/JAD-215167.

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.

BMC Neurol. 2021 Nov 9;21(1):439. doi: 10.1186/s12883-021-02478-0.

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

J Child Neurol. 2016 Aug;31(9):1114-9. doi: 10.1177/0883073816639718. Epub 2016 Mar 31.

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

J Neurol Sci. 2007 Sep 15;260(1-2):78-82. doi: 10.1016/j.jns.2007.04.013. Epub 2007 May 15.

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

J Child Neurol. 2018 Apr;33(5):329-332. doi: 10.1177/0883073818756680. Epub 2018 Feb 8.

Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene.

Neurobiol Aging. 2017 May;53:193.e1-193.e5. doi: 10.1016/j.neurobiolaging.2016.12.026. Epub 2017 Jan 6.

A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

Arch Neurol. 2004 Nov;61(11):1773-6. doi: 10.1001/archneur.61.11.1773.

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Neurosci Lett. 2004 Sep 30;368(3):319-22. doi: 10.1016/j.neulet.2004.07.057.

本文引用的文献

PET evidence of preclinical cerebellar amyloid plaque deposition in autosomal dominant Alzheimer's disease-causing Presenilin-1 E280A mutation carriers.

Neuroimage Clin. 2021;31:102749. doi: 10.1016/j.nicl.2021.102749. Epub 2021 Jul 4.

Spastic paraplegia preceding -related familial Alzheimer's disease.

Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186. eCollection 2021.

Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.

Neurobiol Aging. 2019 Sep;81:1-8. doi: 10.1016/j.neurobiolaging.2019.04.010. Epub 2019 May 17.

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

PLoS Med. 2017 Mar 28;14(3):e1002270. doi: 10.1371/journal.pmed.1002270. eCollection 2017 Mar.

Variable phenotype of Alzheimer's disease with spastic paraparesis.

J Neurochem. 2008 Feb;104(3):573-83. doi: 10.1111/j.1471-4159.2007.05038.x. Epub 2007 Nov 6.

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.

J Neuropathol Exp Neurol. 2001 May;60(5):483-92. doi: 10.1093/jnen/60.5.483.

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

Nat Genet. 1995 Oct;11(2):219-22. doi: 10.1038/ng1095-219.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in -1.

作者信息

机构信息

出版信息

相似文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

本文引用的文献