Journal of Neurology

, Volume 259, Issue 5, pp 833–837

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

  • Raffaele Dubbioso
  • Pasquale Moretta
  • Fiore Manganelli
  • Chiara Fiorillo
  • Rosa Iodice
  • Luigi Trojano
  • Lucio Santoro
Original Communication

DOI: 10.1007/s00415-011-6255-y

Cite this article as:
Dubbioso, R., Moretta, P., Manganelli, F. et al. J Neurol (2012) 259: 833. doi:10.1007/s00415-011-6255-y

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.

Keywords

Oculopharyngeal muscular dystrophy Heterozygote patients Executive defects Psychiatric disturbances Central nervous system GCN expansion 

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Raffaele Dubbioso
    • 1
  • Pasquale Moretta
    • 2
  • Fiore Manganelli
    • 1
  • Chiara Fiorillo
    • 3
  • Rosa Iodice
    • 1
  • Luigi Trojano
    • 4
  • Lucio Santoro
    • 1
  1. 1.Department of Neurological SciencesUniversity Federico II of NaplesNaplesItaly
  2. 2.Salvatore Maugeri FoundationIRCCS, Scientific Institute of Telese Terme (BN)NaplesItaly
  3. 3.Molecular Medicine, Neurogenetics and Neurodegenerative DiseasesIRCCS Fondazione Stella MarisPisaItaly
  4. 4.Neuropsychology Lab, Department of PsychologySecond University of NaplesCasertaItaly

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