Data di Pubblicazione:
2007
Citazione:
Cerebral involvement in myotonic dystrophies / G. Meola, V. Sansone. - In: MUSCLE & NERVE. - ISSN 0148-639X. - 36:3(2007), pp. 294-306. [10.1002/mus.20800]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
brain ; myotonic dystrophy type 1 ; myotonic dystrophy type 2 ;
neuroimaging ; neuropsychological tests
Elenco autori:
G. Meola, V. Sansone
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