Neocerebellar abnormalities in a neonate with the FOXP2 mutation

Citation

Argyropoulos G, Elward R, Saini M, Mishkin M & Vargha-Khadem F (2016) Neocerebellar abnormalities in a neonate with the FOXP2 mutation. 2016 Mid-Year Meeting International Neuropsychological Society, London, 06.07.2016-08.07.2016. https://doi.org/10.1017/s1355617716001181

Abstract
Objective: A dominantly inherited verbal and orofacial dyspraxia in half the members of the multi-generational ‘KE family' is linked to a mutation in FOXP2, the first gene implicated in the developmental processes culminating in articulate speech and language. Neural and genetic substrates of this disorder may inform the ontogeny and developmental trajectory of human speech. Foxp2 expression is known to occur strikingly early during embryonic development and is prominent in the human, rodent and avian olivo- and ponto-cerebellar circuits. Indeed, imaging studies from our laboratory on affected KE family members aged 9-77 years have previously reported structural and functional abnormalities in the cerebellum as well as other cortical and subcortical structures. However, up to now, it had not been possible to document the emergence of FOXP2-dependent abnormalities in the brain of affected neonates from this large pedigree.