Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography.
Fluorodeoxyglucose PET
Iturriaga scale
Neurodegenerative
Niemann–Pick disease type C
Normal database statistical comparison
Stereotactic surface projection
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
16
12
2020
accepted:
25
03
2021
revised:
23
03
2021
pubmed:
9
4
2021
medline:
29
9
2021
entrez:
8
4
2021
Statut:
ppublish
Résumé
Niemann Pick disease type C (NPC) is a rare progressive neurovisceral lysosomal disorder caused by autosomal recessive mutations in the NPC1 or NPC2 genes. 18F-fluorodeoxyglucose (FDG) is a positron-emitting glucose analogue for non-invasive imaging of brain metabolism. FDG PET is commonly used for dementia imaging but its specific application to NPC is rarely described. This is a retrospective study of all baseline brain FDG PET performed for NPC patients. Images were assessed using a normal database statistical comparison of metabolic changes expressed in standard deviations and three-dimensional Stereotactic Surface Projection maps. Typical hypometabolic patterns in NPC were identified. We further investigated any correlation between the degree of regional brain hypometabolism and the Iturriaga clinical severity scale. Brain FDG PET images of 14 adolescent-adult NPC patients were analysed, with mean age of 35 years. We found significant frontal lobe hypometabolism in 12 patients (86%), thalamic hypometabolism in eight patients (57%) and variable parietal lobe hypometabolism in 13 patients (93%). Hypometabolic changes were usually bilateral and symmetric. Ten out of 13 ataxic patients showed cerebellar or thalamic hypometabolism (sensitivity 77%, specificity 100%). Linear regression analysis showed frontal lobe hypometabolism to have the best correlation with the Iturriaga clinical scale (R We found bilateral symmetric hypometabolism of the frontal lobes, thalami and parietal lobes (especially posterior cingulate gyrus) to be typical of adolescent-adult NPC. Ataxia was commonly associated with cerebellar or thalamic hypometabolism. Frontal lobe hypometabolism showed the best inverse correlation with clinical severity.
Identifiants
pubmed: 33830335
doi: 10.1007/s00415-021-10535-4
pii: 10.1007/s00415-021-10535-4
doi:
Substances chimiques
Fluorodeoxyglucose F18
0Z5B2CJX4D
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3878-3885Informations de copyright
© 2021. Springer-Verlag GmbH Germany, part of Springer Nature.
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