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

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

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.

No abstract available

Keywords: de novo mutation; early‐onset Alzheimer's disease; presenilin‐1; spastic paraplegia.