A novel presenilin 1 duplication mutation (Ile168dup) causing Alzheimer's disease associated with myoclonus, seizures and pyramidal features.

Alzheimer Disease / genetics Dementia / genetics Female Humans INDEL Mutation / genetics Male Mutagenesis, Insertional / genetics Myoclonus / genetics Presenilin-1 / genetics Seizures / genetics
Dementia Early-onset Alzheimer's disease Familial Alzheimer's disease Novel mutation PSEN1 mutation

Journal

Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437

Informations de publication

Date de publication:
07 2021
Historique:
received: 19 10 2020
revised: 22 01 2021
accepted: 28 01 2021
pubmed: 3 3 2021
medline: 24 12 2021
entrez: 2 3 2021
Statut: ppublish

Résumé

Mutations in the Presenilin 1 (PSEN1) gene are the most common cause of autosomal dominant familial Alzheimer's disease. We report the clinical, imaging and postmortem findings of kindred carrying a novel duplication mutation (Ile168dup) in the PSEN1 gene. We interpret the pathogenicity of this novel variant and discuss the additional neurological features (pyramidal dysfunction, myoclonus and seizures) that accompanied cognitive decline. This report broadens the clinical phenotype of PSEN1 insertion mutations while also highlighting the importance of considering duplication, insertion and deletion mutations in cases of young onset dementia.

Identifiants

DOI: 10.1016/j.neurobiolaging.2021.01.032 PMID: 33648786
pubmed: 33648786
pii: S0197-4580(21)00046-4
doi: 10.1016/j.neurobiolaging.2021.01.032
pii:
doi:

Substances chimiques

PSEN1 protein, human 0
Presenilin-1 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

137.e1-137.e5

Subventions

Organisme : Medical Research Council
ID : MC_UU_00024/1
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Auteurs

Antoinette O'Connor (A)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at UCL, London, UK.

Emily Abel (E)

UK Dementia Research Institute at UCL, London, UK.

M R Fraser (MR)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at UCL, London, UK.

Natalie S Ryan (NS)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at UCL, London, UK.

Daniel A Jiménez (DA)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.

Carolin Koriath (C)

MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK.

Lucía Chávez-Gutiérrez (L)

VIB-KU Leuven Centre for Brain and Disease Research, Leuven, Belgium; Department of Neurosciences, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven, Leuven, Belgium.

Olaf Ansorge (O)

Academic Unit of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Catherine J Mummery (CJ)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.

Tammaryn Lashley (T)

Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.

Martin N Rossor (MN)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.

James M Polke (JM)

Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.

Simon Mead (S)

MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK; National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.

Nick C Fox (NC)

Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at UCL, London, UK. Electronic address: n.fox@ucl.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Maladie d'Alzheimer › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Mutation de type INDEL › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Mutagenèse par insertion › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Myoclonie › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Présénilines › Préséniline-1 › A novel presenilin 1 duplication mutation...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Crises épileptiques › A novel presenilin 1 duplication mutation...