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Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

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Acknowledgments

This study was funded by European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 281234, and supported by A-NCL. The contributions of doctors B. Castaldi and S. Maschietto for cardiologic assessment, doctor A. Suppiej for neurophysiological investigations, doctor F. Benini for care and life support (all from Paediatric University Hospital, Padua) are fully appreciated. SM, FMS and AS are attending at the Italian NCL network CLNet. FMS and AS are members of the DemChild-International NCL Registry.

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    Authors and Affiliations

    1. Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy

      Stefano Doccini, Francesca Moro & Filippo M. Santorelli

    2. Child Neurology, Paediatric University Hospital, Padua, Italy

      Stefano Sartori, Sara Rossato & Irene Toldo

    3. Steinbeis Center for Biopolymer Analysis and Biomedical Mass Spectrometry, Russelsheim am Main, Germany

      Stefan Maeser & Michael Przybylski

    4. Neurology-Child Neurology and Psychiatry, Department of Neuroscience, Biomedicine and Movement, University of Verona, Policlinico GB Rossi, P.le LA Scuro, 37134, Verona, Italy

      Francesco Pezzini & Alessandro Simonati

    Authors
    1. Stefano Doccini
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    2. Stefano Sartori
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    3. Stefan Maeser
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    4. Francesco Pezzini
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    5. Sara Rossato
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    6. Francesca Moro
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    7. Irene Toldo
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    8. Michael Przybylski
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    9. Filippo M. Santorelli
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    10. Alessandro Simonati
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    Corresponding authors

    Correspondence to Filippo M. Santorelli or Alessandro Simonati.

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    Ethical approval statement

    The diagnostic studies herein described were approved by the ethics committee of IRCCS-Stella Maris, Pisa, Italy. All the procedures were performed in compliance with the Helsinki Declaration of 1975.

    Conflicts of interest

    On behalf of all authors, the corresponding author states that there is no conflict of interest.

    Additional information

    S. Doccini, S. Sartori and S. Maeser contributed equally.

    F. M. Santorelli and A. Simonati share the senior authorship.

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    Doccini, S., Sartori, S., Maeser, S. et al. Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD . J Neurol 263, 1029–1032 (2016). https://doi.org/10.1007/s00415-016-8111-6

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    • DOI: https://doi.org/10.1007/s00415-016-8111-6

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