Liegeois, FJ;
Hildebrand, MS;
Bonthrone, A;
Turner, SJ;
Scheffer, IE;
Bahlo, M;
Connelly, A;
(2016)
Early neuroimaging markers of FOXP2 intragenic deletion.
Scientific Reports
, 6
, Article ARTN 351. 10.1038/srep35192.
![[thumbnail of srep35192.pdf]](https://discovery.ucl.ac.uk/style/images/fileicons/text.png) |
Text
srep35192.pdf - Published Version Download (840kB) |
Abstract
FOXP2 is the major gene associated with severe, persistent, developmental speech and language disorders. While studies in the original family in which a FOXP2 mutation was found showed volume reduction and reduced activation in core language and speech networks, there have been no imaging studies of different FOXP2 mutations. We conducted a multimodal MRI study in an eight-year-old boy (A-II) with a de novo FOXP2 intragenic deletion. A-II showed marked bilateral volume reductions in the hippocampus, thalamus, globus pallidus, and caudate nucleus compared with 26 control males (effect sizes from −1 to −3). He showed no detectable functional MRI activity when repeating nonsense words. The hippocampus is implicated for the first time in FOXP2 diseases. We conclude that FOXP2 anomaly is either directly or indirectly associated with atypical development of widespread subcortical networks early in life.
| Type: | Article |
|---|---|
| Title: | Early neuroimaging markers of FOXP2 intragenic deletion |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/srep35192 |
| Publisher version: | http://dx.doi.org/10.1038/srep35192 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, VOXEL-BASED MORPHOMETRY, LANGUAGE DISORDER, BASAL GANGLIA, INHERITED SPEECH, BRAIN ABNORMALITIES, MEMORY, IMPAIRMENT, EXPRESSION, GENE, SEGMENTATION |
| 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 Population Health Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1524628 |
Archive Staff Only
 |
View Item |
