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Cerebral involvement in myotonic dystrophies
Author(s) -
Meola Giovanni,
Sansone Valeria
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20800
Subject(s) - myotonic dystrophy , myotonia , rna splicing , cataracts , biology , neuroscience , alternative splicing , autism , neuroimaging , genetics , exon , medicine , rna , bioinformatics , gene , psychiatry
Abstract 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. Muscle Nerve, 2007