DNAJC12 Disease
DNAJC12 disease is a new metabolic neurodevelopmental disorder linked to parkinsonism. The combined effects of neurotransmitter depletion and disrupted enzyme proteostasis in dopaminergic and serotoninergic neurons may underlie the early neurodevelopmental presentation and subsequent neurologic and psychiatric disorders.
Authors
- Rita Ortolano (ORCID: https://orcid.org/0000-0001-8218-1463)
- Claudia Carducci (ORCID: https://orcid.org/0000-0003-0515-9208)
- R. Guerrini
- Giacomina Ricciardi (ORCID: https://orcid.org/0000-0003-0686-2499)
- Maria Teresa Carbone (ORCID: https://orcid.org/0000-0003-0205-9711)
- Francesca Nardecchia (ORCID: https://orcid.org/0000-0002-0808-2827)
- Alberto Burlina (ORCID: https://orcid.org/0000-0001-7724-137X)
- V. Leuzzi
- Francesco Porta (ORCID: https://orcid.org/0000-0003-3899-4867)
- Francesco Pisani (ORCID: https://orcid.org/0000-0002-6853-5605)
- Manuela Tolve (ORCID: https://orcid.org/0000-0003-0263-4325)
- Cristiana Artiola
- Davide Antonio Mei (ORCID: https://orcid.org/0009-0000-6345-3742)
- Angeloni Antonio
- Egidio Candela
- Filippo Manti
Institutions
- Policlinico Umberto I (IT)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Meyer Children's Hospital (IT)
- Santobono Children's Hospital (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-12-24
- DOI
- https://doi.org/10.1212/nxg.0000000000200335
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00