Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.

ABSTRACT:

Objective

FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations.

Methods

We compiled 34 patients with a heterozygous (likely) pathogenic FOXG1 variant. Qualitative assessment of cerebral anomalies was performed by standardized re-analysis of all 34 MRI data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult Foxg1+/- mice were examined using immunohistological stainings f

SUBMITTER: Pringsheim M 

PROVIDER: S-EPMC6469254 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature