Volume 24, Issue 11 p. 1676-1683
Research Article

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

Fabienne Ory-Magne MD

Fabienne Ory-Magne MD

Department of Neurosciences, University Hospital of Toulouse, Toulouse, France

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Christine Brefel-Courbon MD

Christine Brefel-Courbon MD

Department of Neurosciences, University Hospital of Toulouse, Toulouse, France

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Pierre Payoux MD, PhD

Pierre Payoux MD, PhD

Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France

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Sabrina Debruxelles MD

Sabrina Debruxelles MD

Department of Neurology, University Hospital of Bordeaux, Bordeaux, France

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Igor Sibon MD, PhD

Igor Sibon MD, PhD

Department of Neurology, University Hospital of Bordeaux, Bordeaux, France

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Cyril Goizet MD, PhD

Cyril Goizet MD, PhD

Department of Neurology, University Hospital of Bordeaux, Bordeaux, France

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Pierre Labauge MD, PhD

Pierre Labauge MD, PhD

Department of Neurology, University Hospital of Montpellier, Montpellier, France

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Patrice Menegon MD

Patrice Menegon MD

Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France

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Emmanuelle Uro-Coste MD

Emmanuelle Uro-Coste MD

Department of Pathology, University Hospital of Toulouse, Toulouse, France

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Bernardino Ghetti MD

Bernardino Ghetti MD

Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA

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Marie Bernadetle Delisle MD

Marie Bernadetle Delisle MD

Department of Pathology, University Hospital of Toulouse, Toulouse, France

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Ruben Vidal PhD

Ruben Vidal PhD

Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA

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Olivier Rascol MD, PhD

Corresponding Author

Olivier Rascol MD, PhD

Department of Neurosciences, University Hospital of Toulouse, Toulouse, France

Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France

Laboratoire de Pharmacologie, 37 allées Jules Guesde, 31000, Toulouse, FranceSearch for more papers by this author
First published: 09 June 2009
Citations: 23

Potential conflict of interest: Nothing to report.

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. © 2009 Movement Disorder Society