Patient affected by beta-propeller protein-associated neurodegeneration: A therapeutic attempt with iron vhelation therapy

Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti, Celeste Panteghini, Barbara Garavaglia, Miryam Carecchio, Elia Antonio Emanuele, Gian L. Forni, Enrico Granieri

Research output: Contribution to journalArticlepeer-review

Abstract

Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hypertonic syndrome with juvenile onset. Genetic investigations and T1 and T2-weighted MR images align with what is described in literature. The patient was also subjected to PET with 18-FDG investigation and DaT-Scan study. In reporting relevant clinical data, we want to emphasize the fact that the patient received a chelation therapy with deferiprone (treatment already used in other forms of NBIA with encouraging results), which, however, had to be interrupted because the parkinsonian symptoms worsened. Conversely, the patient has benefited from nondrug therapies and, in particular, from an adapted motor activity with assisted pedaling (method in the process of validation in treatments of parkinsonian syndromes), which started before the treatment with deferiprone and still continues.

Original languageEnglish
Article number385
JournalFrontiers in Neurology
Volume8
Issue numberAUG
DOIs
Publication statusPublished - Aug 21 2017

Keywords

  • Basal ganglia
  • Beta-propeller protein-associated neurodegeneration
  • Iron
  • Iron-chelating agents
  • NBIA disorders

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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