Amyotrophic lateral sclerosis and cerebellum.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
22 07 2022
22 07 2022
Historique:
received:
12
04
2022
accepted:
15
07
2022
entrez:
22
7
2022
pubmed:
23
7
2022
medline:
27
7
2022
Statut:
epublish
Résumé
Amyotrophic lateral sclerosis (ALS) is a devastating, heterogeneous neurodegenerative neuromuscular disease that leads to a fatal outcome within 2-5 years, and yet, a precise nature of the association between its major phenotypes and the cerebellar role in ALS pathology remains unknown. Recently, repeat expansions in several genes in which variants appreciably contribute to cerebellar pathology, including C9orf72, NIPA1, ATXN2 and ATXN1, have been found to confer a significant risk for ALS. To better define this relationship, we performed MAGMA gene-based analysis and tissue enrichment analysis using genome-wide association study summary statistics based on a study of 27,205 people with ALS and 110,881 controls. Our preliminary results imply a striking cerebellar tissue specificity and further support increasing calls for re-evaluation of the cerebellar role in the ALS pathology.
Identifiants
pubmed: 35869263
doi: 10.1038/s41598-022-16772-5
pii: 10.1038/s41598-022-16772-5
pmc: PMC9307771
doi:
Substances chimiques
C9orf72 Protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
12586Subventions
Organisme : Medical Research Council
ID : MR/R024804/1
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : AL-CHALABI/APR15/844-791
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 103952/Z/14/Z
Pays : United Kingdom
Organisme : Department of Health
ID : NIHR202421
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : ALCHALABI-DOBSON/APR14/829-791
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L501529/1
Pays : United Kingdom
Informations de copyright
© 2022. The Author(s).
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