The neuropsychological profile may also be modulated by the environment in DM1

The neuropsychological assessment and brain MRI of two young women, monozygotic twins aged 29 with Steinert disease, showed slight differences:

  • although they both have normal IQs, one has more difficulty with emotional functioning, while the second has difficulty with social cognition;
  • the latter had grey matter atrophy in an additional area of the brain compared to her twin;
  • both young women have similar white matter involvement.

Their illness began at the same age. They were brought up together but attended different schools, and did not share the same friendships or hobbies. The authors suggest that differences in grey matter volumes appear to be associated with impairment of social cognition and could be modulated by the environment.

 

Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype. Serra L, Petrucci A, Bruschini M et al. Neuromuscul Disord. 2024 Jul;40:24-30.