Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC)

Fabienne Ory-Magne, Christine Brefel-Courbon, Pierre Payoux, Sabrina Debruxelles, Igor Sibon, Cyril Goizet, Pierre Labauge, Patrice Menegon, Emmanuelle Uro-Coste, Bernardino Ghetti, Marie Bernadetle Delisle, Ruben Vidal, Olivier Rascol

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498-499InsTC mutation). Case reports of the clinical features, MRI, 18FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype-1) or cerebellar signs (phenotype-2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. 18FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the FTL498-499InsTC mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia.

Original languageEnglish (US)
Pages (from-to)1676-1683
Number of pages8
JournalMovement Disorders
Volume24
Issue number11
DOIs
StatePublished - Aug 15 2009

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Keywords

  • Basal ganglia
  • Ferritin
  • Hereditary ferritinopathy
  • Iron
  • Neuroferritinopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Ory-Magne, F., Brefel-Courbon, C., Payoux, P., Debruxelles, S., Sibon, I., Goizet, C., Labauge, P., Menegon, P., Uro-Coste, E., Ghetti, B., Delisle, M. B., Vidal, R., & Rascol, O. (2009). Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC). Movement Disorders, 24(11), 1676-1683. https://doi.org/10.1002/mds.22669