Neurological Sciences

, Volume 28, Issue 6, pp 339–341 | Cite as

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report

  • L. Tremolizzo
  • A. Galbussera
  • E. Tagliabue
  • S. Fermi
  • M. Bruttini
  • C. Lamperti
  • M. Moggio
  • I. Appollonio
  • C. Ferrarese
Case Report

Abstract

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.

Key words

Oculopharyngeal muscular dystrophy Sporadic De novo mutation PABPN1 

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Copyright information

© Springer-Verlag Italia 2007

Authors and Affiliations

  • L. Tremolizzo
    • 1
    • 2
  • A. Galbussera
    • 1
    • 2
  • E. Tagliabue
    • 1
    • 2
  • S. Fermi
    • 1
  • M. Bruttini
    • 4
  • C. Lamperti
    • 5
  • M. Moggio
    • 5
  • I. Appollonio
    • 1
    • 2
  • C. Ferrarese
    • 1
    • 2
    • 3
  1. 1.Department of NeurologyUniversity of Milano-Bicocca S. Gerardo HospitalMonza (MI)Italy
  2. 2.Department of NeuroscienceUniversity of Milano-BicoccaMilanItaly
  3. 3.Scientific Institute “E. Medea”Bosisio Parini (LC)Italy
  4. 4.Department of Molecular Biology Medical Genetics UnitUniversity of SienaSienaItaly
  5. 5.Fondazione Ospedale Maggiore Policlinico IRCCS Centro Dino FerrariUniversity of MilanoMilanItaly

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