| Popis: |
In addition of moderate to severe mental retardation, FraX individuals exhibit macroorchidism, an elongated face (7), long ears, connective tissue dysplasia, hyperactivity, autistic-like and stereotypical behaviours, speech delay and increased sensory sensitivity (8,9). Typical neuropathological features of the FraX are long, thin, and tortuous appearance of cortical dendritic spines (10,11), increased intracranial volume (12), enlarged ventricles, increased volumes of selective subcortical gray matter regions, decreased size of the posterior cerebellar vermis (13), and an altered glucose metabolism (14). |
