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Master Thesis

Neurodégénérescences avec accumulation intracérébrale de fer : état des lieux, perspectives diagnostiques et thérapeutiques

Abstract : Neurodegeneration with brain iron accumulation, or NBIA, is a group of rare diseases, which have in common a cerebral accumulation of iron in the basal ganglia, mainly in the globi pallidi and substantia nigra, associated with various neurological symptoms. The prevalence is ultra-rare, with heterogeneous clinical presentations in age of onset and evolution. There are currently 15 genes responsible for NBIA. The laboratory of molecular biology of Bordeaux University Hospital has been sequencing 9 of these genes since 2014 and has made it possible to make a diagnosis in 63 patients, thus refining and completing the phenotypes associated with each gene described in the literature. However, 169 patients remain without a molecular diagnosis after this sequencing. The analysis of the data of these patients shows that the main difference is the age of onset of the disease, with a significantly later age for patients without a diagnosis at the end of the panel. We performed trio exome sequencing for 4 of these patients. The analysis of these exomes did not identify a single-gene diagnostic; however, exome sequencing has many limitations, and does not exclude the possibility of performing a molecular diagnosis for these patients in the future. Finally, the management of NBIA remains symptomatic. There are many treatments currently being tested and validated, one of the most serious being conservative iron chelation, delivered at early stages of the disease, which gives hope of a treatment in the near future for these patients.
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Submitted on : Thursday, November 4, 2021 - 3:01:43 PM
Last modification on : Tuesday, December 14, 2021 - 3:56:59 AM
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  • HAL Id : dumas-03414577, version 1



Chloé Ariane Angelini. Neurodégénérescences avec accumulation intracérébrale de fer : état des lieux, perspectives diagnostiques et thérapeutiques. Sciences du Vivant [q-bio]. 2021. ⟨dumas-03414577⟩



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