Article
Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).
Movement disorders : official journal of the Movement Disorder Society - 15 Aug 2009
Ory-Magne Fabienne, Brefel-Courbon Christine, Payoux Pierre, Debruxelles Sabrina, Sibon Igor, Goizet Cyril, Labauge Pierre, Menegon Patrice, Uro-Coste Emmanuelle, Ghetti Bernardino, Delisle Marie Bernadetle, Vidal Ruben, Rascol Olivier
Abstract excerpt
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, (18)FDG 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,...
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