Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.
Aceruloplaminemia
Cardiac MIBG scintigraphy
DAT-SPECT
FDG-PET imaging
MRI
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
18
06
2021
accepted:
10
09
2021
pubmed:
25
9
2021
medline:
24
2
2022
entrez:
24
9
2021
Statut:
ppublish
Résumé
Structural abnormalities in thalami and basal ganglia, in particular the globus pallidus (GP), are a neuroimaging hallmark of hereditary aceruloplasminemia (HA), yet few functional imaging data exit in HA carriers. This study investigated the iron-related structural and functional abnormalities in an Italian HA family. Multimodal imaging was used including structural 3 T MRI, functional imaging (SPECT imaging with We investigated two cousins carrying a novel splicing homozygous mutation in intron 6 (IVS6 + 1 G > A) of CP gene. Interestingly, MRI features in both subjects were characterized by marked iron accumulation in the thalami and basal ganglia nuclei, while GP was not affected. MRI performed in the proband at 2 and 4 years of follow-up confirmed progressive neurodegeneration of the thalami and basal ganglia without the involvement of GP. Functional imaging showed reduced putaminal DAT uptake in both cousins, whereas cardiac MIBG and FDG uptakes performed in the proband were normal. Longitudinal scintigraphic investigations did not show significant changes over the time. For HA carriers, our findings demonstrate that GP was spared by iron accumulation over the time. The nigrostriatal presynaptic dopaminergic system was damaged while the cardiac sympathetic system remained longitudinally preserved, thus expanding the imaging features of this rare inherited disorder.
Identifiants
pubmed: 34559338
doi: 10.1007/s10072-021-05613-4
pii: 10.1007/s10072-021-05613-4
doi:
Substances chimiques
Radiopharmaceuticals
0
3-Iodobenzylguanidine
35MRW7B4AD
Ceruloplasmin
EC 1.16.3.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1791-1797Informations de copyright
© 2021. Fondazione Società Italiana di Neurologia.
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