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

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本文引用的文献

1
PET evidence of preclinical cerebellar amyloid plaque deposition in autosomal dominant Alzheimer's disease-causing Presenilin-1 E280A mutation carriers.携带早发性阿尔茨海默病致病 PSEN1 E280A 突变的常染色体显性遗传患者小脑淀粉样斑块沉积的 PET 证据。
Neuroimage Clin. 2021;31:102749. doi: 10.1016/j.nicl.2021.102749. Epub 2021 Jul 4.
2
Spastic paraplegia preceding -related familial Alzheimer's disease.与家族性阿尔茨海默病相关的痉挛性截瘫前期
Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186. eCollection 2021.
3
Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.
早老素 1 突变携带者中 18F-氟比他滨摄取的区域模式。
Neurobiol Aging. 2019 Sep;81:1-8. doi: 10.1016/j.neurobiolaging.2019.04.010. Epub 2019 May 17.
4
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.早发性阿尔茨海默病中APP、PSEN1和PSEN2基因突变：家族性和散发性病例的基因筛查研究
PLoS Med. 2017 Mar 28;14(3):e1002270. doi: 10.1371/journal.pmed.1002270. eCollection 2017 Mar.
5
Variable phenotype of Alzheimer's disease with spastic paraparesis.伴有痉挛性截瘫的阿尔茨海默病可变表型
J Neurochem. 2008 Feb;104(3):573-83. doi: 10.1111/j.1471-4159.2007.05038.x. Epub 2007 Nov 6.
6
Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.伴有痉挛性截瘫的变异型阿尔茨海默病：神经病理学表型
J Neuropathol Exp Neurol. 2001 May;60(5):483-92. doi: 10.1093/jnen/60.5.483.
7
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.早老素1（S182）基因的结构及早发性阿尔茨海默病家系中六个新突变的鉴定。
Nat Genet. 1995 Oct;11(2):219-22. doi: 10.1038/ng1095-219.