New insights into creatine transporter deficiency

Identification of neuropathological and metabolic targets for treatment
  • Angelo Molinaro,

Creatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads to a progressive damage of brain functions; cell energy metabolism and mitochondria seem strongly involved in the pathogenesis and they could represent useful potential targets for therapeutic interventions; inflammation seems to play an important part in this progressive damage, and this observation can pave the way to treatment strategies; neural circuits disruption involving inhibitory systems could give a huge contribute to many of the clinical aspects observed in patients, as epilepsy and cognitive impairment, since the excitatory/inhibitory balance is fundamental for the normal function of neural circuits. Factors outside the CNS are important in the pathogenesis of at least some aspects of the disorder, since the conditional KO model show difference in the timing of onset of some cognitive defects and in the presence of stereotypies.

  • Keywords:
  • creatine,
  • transporter,
  • brain,
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Angelo Molinaro

Università di Firenze - ORCID: 0000-0003-1690-5448

Angelo Molinaro earned an MD at University of Pisa in 2009 (cum laude) and subsequently the title of Specialist in Endocrinology and Metabolic disorders (cum laude, at University of Pisa). He was Research Fellow at Harvard Medical School and Massachusetts General Hospital, with Prof. Jüppner studying the molecular genetics of rare endocrine diseases. He worked at the Free University of Bruxelles in the lab of the Prof. Sabine Costagliola studying the cellular and molecular embryology of early thyroid development. Subsequently, earned a PhD in Neuroscience (with distinction) at the University of Florence in the lab of Prof. Tommaso Pizzorusso (Institute of Neuroscience, CNR in Pisa) and in Paris at the Institute for Brain and Spinal Cord affiliated to Sorbonne Université with Prof. Alberto Bacci and Prof. Laurence Cathala.
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  • Publication Year: 2020
  • Pages: 116
  • eISBN: 978-88-5518-082-5
  • Content License: CC BY 4.0
  • © 2020 Author(s)

  • Publication Year: 2020
  • eISBN: 978-88-5518-083-2
  • Content License: CC BY 4.0
  • © 2020 Author(s)

  • Publication Year: 2020
  • Pages: 116
  • ISBN: 978-88-5518-081-8
  • Content License: CC BY 4.0
  • © 2020 Author(s)

Bibliographic Information

Book Title

New insights into creatine transporter deficiency

Book Subtitle

Identification of neuropathological and metabolic targets for treatment


Angelo Molinaro

Peer Reviewed

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Publication Year


Copyright Information

© 2020 Author(s)

Content License

CC BY 4.0

Metadata License

CC0 1.0

Publisher Name

Firenze University Press



ISBN Print


eISBN (pdf)


eISBN (xml)


Series Title

Premio Tesi di Dottorato

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Series E-ISSN






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