Academic Journal
Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2
| العنوان: | Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2 |
|---|---|
| المؤلفون: | Argyropoulos, G. P. D, Watkins, K. E., Belton-Pagnamenta, Emma, Liégeois, F., Saleem, K. S., Mishkin, M., Vargha-Khadem, F. |
| بيانات النشر: | Springer |
| سنة النشر: | 2019 |
| المجموعة: | CentAUR: Central Archive at the University of Reading |
| الوصف: | Bilateral volume reduction in the caudate nucleus has been established as a prominent brain abnormality associated with a FOXP2 mutation in affected members of the ‘KE family’, who present with developmental orofacial and verbal dyspraxia in conjunction with pervasive language deficits. Despite the gene’s early and prominent expression in the cerebellum and the evidence for reciprocal cerebellum-basal ganglia connectivity, very little is known about cerebellar abnormalities in affected KE members. Using cerebellum-specific voxel-based morphometry (VBM) and volumetry, we provide converging evidence from subsets of affected KE members scanned at three time points for grey matter (GM) volume reduction bilaterally in neocerebellar lobule VIIa Crus I compared with unaffected members and unrelated controls. We also show that right Crus I volume correlates with left and total caudate nucleus volumes in affected KE members, and that right and total Crus I volumes predict the performance of affected members in non-word repetition and non-verbal orofacial praxis. Crus I also shows bilateral hypo-activation in functional MRI in the affected KE members relative to controls during non-word repetition. The association of Crus I with key aspects of the behavioural phenotype of this FOXP2 point mutation is consistent with recent evidence of cerebellar involvement in complex motor sequencing. For the first time, specific cerebello-basal ganglia loops are implicated in the execution of complex oromotor sequences needed for human speech. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | text |
| اللغة: | English |
| Relation: | https://centaur.reading.ac.uk/81691/1/Argyropoulos2018_Article_NeocerebellarCrusIAbnormalitie.pdf; Argyropoulos, G. P. D., Watkins, K. E., Belton-Pagnamenta, E. orcid:0000-0002-4703-3163 , Liégeois, F., Saleem, K. S., Mishkin, M. and Vargha-Khadem, F. (2019) Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2. The Cerebellum, 18 (3). pp. 309-319. ISSN 1473-4230 doi: https://doi.org/10.1007/s12311-018-0989-3 |
| الاتاحة: | https://centaur.reading.ac.uk/81691/ https://centaur.reading.ac.uk/81691/1/Argyropoulos2018_Article_NeocerebellarCrusIAbnormalitie.pdf |
| Rights: | cc_by_4 |
| رقم الانضمام: | edsbas.B3C20FC3 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |