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- Title
Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy.
- Authors
Dubbioso, Raffaele; Moretta, Pasquale; Manganelli, Fiore; Fiorillo, Chiara; Iodice, Rosa; Trojano, Luigi; Santoro, Lucio
- Abstract
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder caused by a small expansion of a short polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). It presents with adult onset of progressive eyelid drooping, swallowing difficulties and proximal limb weakness, usually without involvement of central nervous system (CNS). However, cognitive decline with relevant behavioural and psychological symptoms has been recently described in homozygous patients. In this study, we performed for the first time an extensive neuropsychological and neuropsychiatric evaluation on 11 OPMD heterozygote patients. We found that they were less efficient than a matched control sample on several tests, particularly those tapping executive functions. Moreover, the presence of negative correlation between GCN expansion size and some neuropsychological scores raises the issue that CNS involvement might be linked to the genetic defect, being worse in patients with larger expansion. Our results might be consistent with the toxic gain-of-function theory in the pathogenesis of OPMD and hint at a possible direct role of PABPN1 in the CNS also in heterozygote patients.
- Subjects
OCULOPHARYNGEAL muscular dystrophy; POLYALANINE; GENETIC carriers; POLY(A)-binding protein I; NEUROPSYCHOLOGICAL tests; PSYCHOLOGICAL manifestations of general diseases; HOMOZYGOSITY
- Publication
Journal of Neurology, 2012, Vol 259, Issue 5, p833
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-011-6255-y