John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A Volume 19, numéro 2, June 2017

Illustrations

  • Figure 1
  • Figure 2
Auteurs
1 Istanbul University, Cerrahpasa School of Medicine, Department of Neurology, Istanbul
2 Batı Bahat Hospital, Istanbul, Turkey
3 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki ; Folkhälsan Institute of Genetics, Helsinki ; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki
4 Folkhälsan Institute of Genetics, Helsinki Finland; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland
* Correspondence: Aysegul Gunduz Department of Neurology, Cerrahpasa School of Medicine, Istanbul University 34098 K.M. Pasa, Istanbul, Turkey
  • Mots-clés : neuronal ceroid lipofuscinosis, electrophysiology, clinical course, CLN6
  • DOI : 10.1684/epd.2017.0911
  • Page(s) : 147-51
  • Année de parution : 2017

Aim

Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene.