Abnormal Gyrification in Brain of early onset Myotonic Dystrophy patients (241)

Objective: To investigate brain imaging abnormalities in Myotonic Dystrophy type 1 (DM1), to evaluate if a cognitive behavioural treatment and motor rehabilitation are applicable to both early-onset juvenile cases and late-onset adult patients Background: The results otained from our and other groups demonstrate, that there are several abnormalities in brain MRI of myotonic dystrophy cases, these changes correlate with personality traits, mood disorders and cognitive performances, specific patterns might explain fatigue, lack of self-awereness, executive and procedural functional domains. The prevalent brain MRI abnormalities are white matter temporal hyperlucency, reduction of volume of gray matter, but it is unknown if these lesions are progressive and how they might influence patient performance. Tractography analysis show an increased mean diffusivity in all the four lobes and a reduction of fractional anisotropy in the main white matter tracts. Design/Methods: We compared MIRS score and brain MRI in two series of genetically proven DM1 patients:an early-onset group (14 DM1) and a late-onset group (14 DM1) that were analised for cognitive funtions, brain MRI lesions and gyrification. A battery of neurocognitive tests was used to investigate memory, attention, executive and visuo-constructive abilities. Results: The 14 early onset DM1 were 11 males,3 females, the majority had MIRS score 3, they showed abnormal gyrification of brain MRI. Early-onset cases had a mean age of 33 years and an age of onset of 9 years, with a disease duration of 21 years, in the late onset group there were 10 males and 4 females with a mean age of 48 years , disease duration of 14 years, MIRS scores were mostly 3 and 4. Gyrification was not altered respect to control , but was significantly (p Conclusions: There is a significant difference in brain gyrification in early-onset DM1 cases and in their cognitive fuctions, this could be due to a developmental abnormality rather to neuronal degenerative process. Disclosure: Dr. Pinzan has nothing to disclose. Dr. Weis has nothing to disclose. Dr. Angelini has nothing to disclose.