Imperial College London
Alternate

ProfessorAdolfoBronstein

Faculty of Medicine, Department of Brain Sciences

Emeritus Clinical Professor Head of Neuro-otology Unit
 
 
 
//

Contact

 

+44 (0)20 3313 5525a.bronstein

 
 
//

Assistant

 

Miss Lorna Stevenson +44 (0)20 3313 5525

 
//

Location

 

10 L15bLab BlockCharing Cross Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Cortese:2019:10.1038/s41588-019-0372-4,
author = {Cortese, A and Simone, R and Sullivan, R and Vandrovcova, J and Tariq, H and Yau, WY and Humphrey, J and Jaunmuktane, Z and Sivakumar, P and Polke, J and Ilyas, M and Tribollet, E and Tomaselli, PJ and Devigili, G and Callegari, I and Versino, M and Salpietro, V and Efthymiou, S and Kaski, D and Wood, NW and Andrade, NS and Buglo, E and Rebelo, A and Rossor, AM and Bronstein, A and Fratta, P and Marques, WJ and Züchner, S and Reilly, MM and Houlden, H},
doi = {10.1038/s41588-019-0372-4},
journal = {Nature Genetics},
pages = {649--658},
title = {Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.},
url = {http://dx.doi.org/10.1038/s41588-019-0372-4},
volume = {51},
year = {2019}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist. The expansion, which occurs in the poly(A) tail of an AluSx3 element and differs in both size and nucleotide sequence from the reference (AAAAG)11 allele, does not affect RFC1 expression in patient peripheral and brain tissue, suggesting no overt loss of function. These data, along with an expansion carrier frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia.
AU  - Cortese,A
AU  - Simone,R
AU  - Sullivan,R
AU  - Vandrovcova,J
AU  - Tariq,H
AU  - Yau,WY
AU  - Humphrey,J
AU  - Jaunmuktane,Z
AU  - Sivakumar,P
AU  - Polke,J
AU  - Ilyas,M
AU  - Tribollet,E
AU  - Tomaselli,PJ
AU  - Devigili,G
AU  - Callegari,I
AU  - Versino,M
AU  - Salpietro,V
AU  - Efthymiou,S
AU  - Kaski,D
AU  - Wood,NW
AU  - Andrade,NS
AU  - Buglo,E
AU  - Rebelo,A
AU  - Rossor,AM
AU  - Bronstein,A
AU  - Fratta,P
AU  - Marques,WJ
AU  - Züchner,S
AU  - Reilly,MM
AU  - Houlden,H
DO  - 10.1038/s41588-019-0372-4
EP  - 658
PY  - 2019///
SN  - 1061-4036
SP  - 649
TI  - Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/s41588-019-0372-4
UR  - https://www.ncbi.nlm.nih.gov/pubmed/30926972
UR  - https://www.nature.com/articles/s41588-019-0372-4
VL  - 51
ER  -
Download