Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Humans Nervous System Diseases / genetics Diagnosis, Differential DNA Repeat Expansion / genetics

Journal

The Lancet. Neurology
ISSN: 1474-4465
Titre abrégé: Lancet Neurol
Pays: England
ID NLM: 101139309

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 03 02 2024
revised: 04 04 2024
accepted: 09 04 2024
medline: 15 6 2024
pubmed: 15 6 2024
entrez: 14 6 2024
Statut: ppublish

Résumé

Nucleotide repeat expansions in the human genome are a well-known cause of neurological disease. In the past decade, advances in DNA sequencing technologies have led to a better understanding of the role of non-coding DNA, that is, the DNA that is not transcribed into proteins. These techniques have also enabled the identification of pathogenic non-coding repeat expansions that cause neurological disorders. Mounting evidence shows that adult patients with familial or sporadic presentations of epilepsy, cognitive dysfunction, myopathy, neuropathy, ataxia, or movement disorders can be carriers of non-coding repeat expansions. The description of the clinical, epidemiological, and molecular features of these recently identified non-coding repeat expansion disorders should guide clinicians in the diagnosis and management of these patients, and help in the genetic counselling for patients and their families.

Identifiants

DOI: 10.1016/S1474-4422(24)00167-4 PMID: 38876750
pubmed: 38876750
pii: S1474-4422(24)00167-4
doi: 10.1016/S1474-4422(24)00167-4
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

725-739

Informations de copyright

Copyright © 2024 Elsevier Ltd. All rights reserved, including those for text and data mining, AI training, and similar technologies.

Déclaration de conflit d'intérêts

Declaration of interests We declare no competing interests.

Auteurs

Elisa Vegezzi (E)

IRCCS Mondino Foundation, Pavia, Italy.

Hiroyuki Ishiura (H)

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

D Cristopher Bragg (DC)

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

David Pellerin (D)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.

Francesca Magrinelli (F)

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Riccardo Currò (R)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

Stefano Facchini (S)

IRCCS Mondino Foundation, Pavia, Italy; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Arianna Tucci (A)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; William Harvey Research Institute, Queen Mary University of London, London, UK.

John Hardy (J)

Department of Neurogedengerative Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Nutan Sharma (N)

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Matt C Danzi (MC)

Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Stephan Zuchner (S)

Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Bernard Brais (B)

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.

Mary M Reilly (MM)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Shoji Tsuji (S)

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.

Henry Houlden (H)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Andrea Cortese (A)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. Electronic address: andrea.cortese@ucl.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Neurological disorders caused by novel...
questionsmedicales.fr › Maladies du système nerveux › Neurological disorders caused by novel...
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Neurological disorders caused by novel...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Neurological disorders caused by novel...