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Aceruloplasminemia - Springer Nature

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Last Updated: 05 March 2022

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Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation

Objective Structural abnormalities in thalami and basal ganglia, in particular the globus pallidus, are a neuroimaging hallmark of hereditary aceruloplasminemia, but no functional imaging data have been released in HA carriers. This review looked at the occurrence of iron-related structural and functional abnormalities in an Italian HA family. Intron 6 of the CP gene, we investigated two cousins who had a novel splicing homozygous mutation. MRI results in the proband demonstrated progressive neurodegeneration of the thalami and basal ganglia without the participation of a GP. Reduced putaminal DAT uptake in both cousins was found in both families, according to functional imaging, although cardiac MIBG and FDG uptakes in the proband were normal. Our findings, as well as HA carriers, show that GP was saved by iron accumulation as a result of time.

Source link: https://doi.org/10.1007/s10072-021-05613-4

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions