Frequency and Longitudinal Course of Motor Signs In Genetic Frontotemporal Dementia.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
10 Aug 2022
10 Aug 2022
Historique:
received:
12
10
2021
accepted:
21
04
2022
entrez:
10
8
2022
pubmed:
11
8
2022
medline:
11
8
2022
Statut:
aheadofprint
Résumé
Frontotemporal dementia (FTD) is a highly heritable disorder. The majority of genetic cases are caused by autosomal dominant pathogenic variants in the We analyzed baseline visit data of known carriers of a pathogenic variant in the 322 pathogenic variant carriers were included in the analysis: 122 These results indicate the presence of multiple natural clusters of motor signs in genetic FTD, each correlated with specific atrophy patterns. Their motor severity depends on time and the affected gene. These clinico-genetic associations can guide diagnostic evaluations and the design of clinical trials for new disease-modifying and preventive treatments.
Sections du résumé
BACKGROUND AND OBJECTIVES
OBJECTIVE
Frontotemporal dementia (FTD) is a highly heritable disorder. The majority of genetic cases are caused by autosomal dominant pathogenic variants in the
METHODS
METHODS
We analyzed baseline visit data of known carriers of a pathogenic variant in the
RESULTS
RESULTS
322 pathogenic variant carriers were included in the analysis: 122
DISCUSSION
CONCLUSIONS
These results indicate the presence of multiple natural clusters of motor signs in genetic FTD, each correlated with specific atrophy patterns. Their motor severity depends on time and the affected gene. These clinico-genetic associations can guide diagnostic evaluations and the design of clinical trials for new disease-modifying and preventive treatments.
Identifiants
pubmed: 35948443
pii: WNL.0000000000200828
doi: 10.1212/WNL.0000000000200828
pmc: PMC9519250
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MC_UU_00005/12
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M008525/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M023664/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T046015/1
Pays : United Kingdom
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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