Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies

Abstract

The presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of findings have proved that rearrangements located in the second part of the dystrophin (DMD) gene seem to be preferentially associated with cognitive impairment. Dp140 is a distal dystrophin isoform, mainly expressed during fetal brain development, whose role for neuropsychological functioning was suggested.

Keywords

• cognitive impairment
• duchenne muscular dystrophy (dmd)
• becker muscular dystrophy (bmd) dystrophin (dmd) gene
• intermediate muscular dystrophy (imd)
• dp140 isoform
• dystrophinopathies