Hereditary Ferritinopathies

Ruben Vidal, Marie Bernadette Delisle, Olivier Rascol, Bernardino Ghetti

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations

Abstract

The neurodegenerative disease neuroferritinopathy or hereditary ferritinopathy is an autosomal dominant, adult-onset degenerative disease. The clinical phenotype of hereditary ferritinopathy is characterized by motor disturbances, behavioral abnormalities and cognitive impairment. Magnetic resonance imaging shows abnormal signals in the globus pallidus and putamen, as well as cavitation in the putamen. Mild cerebral and cerebellar atrophy may be observed. The disease is characterized by the presence of ferritin inclusion bodies in nuclei and cytoplasm of glial cells and neurons and by abnormal iron deposition in the central nervous system. Ferritin inclusion bodies are also found in cells of other organ systems, including the skin, kidney, liver, and muscle. Serum ferritin levels may be either normal or abnormally low in the presence of normal levels of iron. The disease is caused by nucleotide duplications in exon 4 of the ferritin light chain (FTL) gene that generates FTL polypeptides with abnormal C-termini. Due to the variability of the clinical phenotype, detailed imaging studies and molecular genetic analysis are essential for the accurate diagnosis of hereditary ferritinopathy.

Original languageEnglish (US)
Title of host publicationNeurodegeneration
Subtitle of host publicationThe Molecular Pathology of Dementia and Movement Disorders: Second Edition
PublisherWiley-Blackwell
Pages461-466
Number of pages6
ISBN (Print)9781405196932
DOIs
StatePublished - Sep 21 2011

    Fingerprint

Keywords

  • Ferritin
  • Inclusion bodies
  • Neurodegeneration
  • Oxidative stress

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Vidal, R., Delisle, M. B., Rascol, O., & Ghetti, B. (2011). Hereditary Ferritinopathies. In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition (pp. 461-466). Wiley-Blackwell. https://doi.org/10.1002/9781444341256.ch49