Language fMRI abnormalities associated with FOXP2 gene mutation

  title={Language fMRI abnormalities associated with FOXP2 gene mutation},
  author={Fr{\'e}d{\'e}rique J Li{\'e}geois and Torsten Baldeweg and Alan Connelly and David G. Gadian and Mortimer M. Mishkin and Faraneh Vargha-Khadem},
  journal={Nature Neuroscience},
Half the members of the KE family suffer from a speech and language disorder caused by a mutation in the FOXP2 gene. [] Key Method We examined functional brain abnormalities associated with this mutation using two fMRI language experiments, one involving covert (silent) verb generation and the other overt (spoken) verb generation and word repetition. The unaffected family members showed a typical left-dominant distribution of activation involving Broca's area in the generation tasks and a more bilateral…

Endophenotypes of FOXP2: dysfunction within the human articulatory network.

Neocerebellar Crus I Abnormalities Associated with a Speech and Language Disorder Due to a Mutation in FOXP2

It is shown 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.

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

Investigation of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia and the discovery of the first nonsense mutation in FoxP2 opens the door for detailed investigations of neurodevelopment in people carrying different etiological variants of the gene.

Functional genetic analysis of mutations implicated in a human speech and language disorder.

It is hypothesize that expression of alternative isoforms of FOXP2 may provide mechanisms for post-translational regulation of transcription factor function, and explore the properties of different isoforms, resulting from alternative splicing in human brain.

Phonological working memory and FOXP2

Assessing the effects of common variation in the FOXP2 gene on human brain structure

The impact of this gene on brain structure may be largely limited to extreme cases of rare disruptive alleles, and effects of common variants at this gene exist but are too subtle to be detected with standard volumetric techniques.

Early neuroimaging markers of FOXP2 intragenic deletion

It is concluded that FOXP2 anomaly is either directly or indirectly associated with atypical development of widespread subcortical networks early in life.

Developmental disorders of speech and language: from genes to brain structure and function.

  • K. Watkins
  • Psychology, Biology
    Progress in brain research
  • 2011



MRI analysis of an inherited speech and language disorder: structural brain abnormalities.

The results provide further evidence of a relationship between the abnormal development of this nucleus and the impairments in oromotor control and articulation reported in the KE family.

Neural basis of an inherited speech and language disorder.

The genetic mutation or deletion in this region has resulted in the abnormal development of several brain areas that appear to be critical for both orofacial movements and sequential articulation, leading to marked disruption of speech and expressive language.

Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia

The results confirm that a point mutation in FOXP2 is associated with several bilateral grey matter abnormalities in both motor and language related regions and demonstrate the advantages of using a conjunction analysis when bilateral abnormalities are suspected.

A forkhead-domain gene is mutated in a severe speech and language disorder

It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.

Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.

Investigations of the same KE family indicate that the inherited disorder has a broad phenotype which transcends impaired generation of syntactical rules and includes a striking articulatory impairment as well as defects in intellectual, linguistic, and orofacial praxic functions generally.

Localisation of a gene implicated in a severe speech and language disorder

A genome-wide search for linkage in the KE family is initiated and a region on chromosome 7 which co-segregates with the speech and language disorder is identified, confirming autosomal dominant inheritance with full penetrance.

Molecular evolution of FOXP2, a gene involved in speech and language

It is shown that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

Individual Functional Anatomy of Verb Generation

Results suggest that activation PET with 3D data acquisition, multiple replication of conditions, and coregistration with MRI provides results that are consistent and reproducible enough to be useful clinically for clinical assessment of language-related areas.

Brain Activation During Silent Word Generation Evaluated with Functional MRI

The results are discussed in terms of a cognitive model of word generation and are compared, in detail, with the results of prior relevant imaging studies.

A Direct Test for Lateralization of Language Activation using fMRI: Comparison with Invasive Assessments in Children with Epilepsy

The proposed direct method of assessing cerebral lateralization for language based on fMRI activation gave some indication of the reliability of the lateralization and provided results that, in all eight children, were consistent with those obtained using invasive techniques.