Cerebral involvement in myotonic dystrophies.
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal-dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple organ involvement, including the brain. One key difference between DM1 and DM2 is that a congenital form has been described for DM1 only. Expression of RNA transcripts containing pathogenic repeat lengths produces defects in alternative splicing of multiple RNAs, sequesters specific repeat-binding proteins, and ultimately leads to developmentally inappropriate splice products for a particular tissue. Whether brain pathology in its entirety in adult DM1 and DM2 is caused by interference in RNA processing remains to be determined. This review focuses on the similarities and differences between DM1 and DM2 with respect to neuropsychological, neuropathological, and neuroimaging data relating to cerebral involvement, with special emphasis on the clinical relevance and social consequences of such involvement.
Meola
Giovanni
G
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, San Donato Hospital, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy. giovanni.meola@unimi.it
Sansone
Valeria
V
D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D003072:Cognition Disorders / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D009223:Myotonic Dystrophy / Q000473:pathology / Q000503:physiopathology*