CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile
Authors
S. Aliaga
M. A. Alliende
+8 more
T. Aravena
B. Curotto
R. Hagerman
G. Mendoza-Morales
A. Pugin
Lorena Santa María
H. T. Tang
F. Tassone
Publication date
13 October 2013
Publisher
'Wiley'
Doi
Cite
View
on
PubMed
Abstract
© 2013 John Wiley & Sons A/S. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity
Similar works
Full text
Available Versions
Crossref
See this paper in CORE
Go to the repository landing page
Download from data provider
info:doi/10.1111%2Fcge.12278
Last time updated on 06/12/2019
Sustaining member
eScholarship - University of California
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:escholarship.org:ark:/1303...
Last time updated on 04/05/2023
Repositorio Académico de la Universidad de Chile
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:repositorio.uchile.cl:2250...
Last time updated on 19/04/2019