Tezenas du Montcel, S;
Durr, A;
Rakowicz, M;
Nanetti, L;
Charles, P;
Sulek, A;
Mariotti, C;
... Golmard, JL; + view all
(2014)
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
J Med Genet
, 51
(7)
pp. 479-486.
10.1136/jmedgenet-2013-102200.
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Abstract
The most common spinocerebellar ataxias (SCA)-SCA1, SCA2, SCA3, and SCA6-are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset.
| Type: | Article |
|---|---|
| Title: | Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/jmedgenet-2013-102200 |
| Publisher version: | http://dx.doi.org/10.1136/jmedgenet-2013-102200 |
| Additional information: | © 2014 by the BMJ Publishing Group Ltd. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/ licenses/by-nc/3.0/ |
| Keywords: | Movement disorders (other than Parkinsons) |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1429786 |
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