Early‐Onset Levodopa‐Responsive Parkinsonism with Normal Brain MRI Revealing Aceruloplasminemia
Aceruloplasminemia (ACP) is a rare autosomal recessive disorder of iron metabolism caused by biallelic variants in the ceruloplasmin (CP) gene.The classical phenotype combines diabetes mellitus, retinal degeneration, progressive neurological involvement and iron accumulation in multiple organs, 1 although atypical neurological presentations are increasingly recognized. 2 We describe a woman with genetically confirmed ACP presenting as early-onset, levodopa-responsive parkinsonism with early motor complications and normal brain MRI.
Authors
- Caterina Bagella
- Francesca Pinna (ORCID: https://orcid.org/0000-0001-9403-9392)
- Federica Invernizzi (ORCID: https://orcid.org/0000-0001-8072-0152)
- Claudia Frau (ORCID: https://orcid.org/0009-0006-0140-8034)
- Valeria Tiranti (ORCID: https://orcid.org/0000-0002-3584-7338)
- Paolo Solla (ORCID: https://orcid.org/0000-0002-2982-0665)
- Antonio Emanuele Elia (ORCID: https://orcid.org/0000-0002-5917-7578)
- Andrea Salis (ORCID: https://orcid.org/0000-0001-6651-5937)
- Sabrine Othmani (ORCID: https://orcid.org/0009-0005-9610-3390)
- Elisa Ogana
- Carla Bagella
Institutions
- University of Sassari (IT)
- University of Cagliari (IT)
- Azienda Ospedaliero Universitaria di Sassari (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2026-10-28
- DOI
- https://doi.org/10.1002/mdc3.70879
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00