Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in <scp> <i>Presenilin</i> ‐1 </scp>-Reference-Cited by-同舟云学术

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin ‐1

Published:2022-10-23 Issue:1 Volume:10 Page:148-150
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Muñoz Esteban¹,Jodar Meritxell²,Guerrero Jairo¹,Compta Yaroslau¹,Perissinotti Andrés³,Álvarez‐Mora Maria I.²,Falgàs Neus⁴,Rodríguez‐Revenga Laia²,Sánchez‐Valle Raquel⁴

Affiliation:

1. 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

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

3. Nuclear Medicine Department, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Biomedical Research Networking Center of Bioengineering, Biomaterials, and Nanomedicine Instituto de Salud Carlos III (CIBER‐BBN) Barcelona Spain

4. Alzheimer's Disease and Other Cognitive Disorders Unit. Neurology Service. Institut Clínic de Neurociències, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) University of Barcelona Barcelona Catalonia Spain

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13588

Reference8 articles.

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

2. Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease;Chelban V;Alzheimer's Dement,2021

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

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

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