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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/221340
Hypometabolism and atrophy patterns associated with Niemann-Pick type C
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Background Niemann-Pick disease type C (NP-C) is a rare genetic lysosomal lipid storage disorder characterized by progressive neurological impairment. Early diagnosis is critical for initiating treatment with miglustat, which can decelerate disease progression. In this study, we evaluated a cohort of 22 NP-C patients who underwent MRI, [F-18]FDG PET, and clinical assessment at baseline. We performed a cross-sectional and longitudinal imaging study evaluating the role of [F-18]FDG PET as an adjunct diagnostic tool for NP-C alongside MRI, the current neuroimaging standard. Results Group-level MRI analysis identified significant cerebellar and thalamic atrophy (d = 1.56, p < 0.0001 and d = 1.09, p < 0.001, respectively), with less pronounced involvement of the frontal lobe and hippocampus, which aligned with existing neuropathological understanding and guidelines. Conversely, [F-18]FDG PET imaging revealed extensive hypometabolism in the cerebellum, thalamus, and cingulate cortex (d = 1.42, p < 0.0001), and moderate hypometabolism in broad frontotemporal areas. [F-18]FDG PET provided higher effect sizes across all brain regions, including regions without apparent atrophy, which suggests that it may be more sensitive than MRI for detecting NP-C neurodegenerative changes. Single-subject visual assessment of individual PET images further validated the clinical utility of [F-18]FDG PET, with significant hypometabolism observed in the cerebellum, thalamus and anterior and posterior cingulate reported by physicians in 17/22 patients. Both hypometabolism and atrophy in the cerebellum were associated with ataxia, (more strongly indicated by [F-18]FDG PET, p < 0.0001 vs. MRI, p = 0.07). Medial temporal lobe atrophy was associated with cognitive impairment (p < 0.05), and frontal hypometabolism was slightly related to behavioural impairment (p < 0.07). Longitudinal [F-18]FDG PET analysis revealed progressive subcortical, cortical and cerebellar hypometabolism, which was most pronounced in the cerebellum (-12% per year, p < 0.001). Patients treated with miglustat showed a trend towards attenuated cerebellar hypometabolism progression compared to untreated patients (p = 0.10). Conclusions Our findings delineate a discernible hypometabolism pattern specific to NP-C that distinguishes it from other neurodegenerative conditions, thus suggesting that [F-18]FDG PET might be a promising tool for NP-C diagnosis and to study disease progression.
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SILVA-RODRÍGUEZ, Jesús, CASTRO, Cristina, CORTÉS, Julia, ARIAS, Manuel, PUBUL, Virginia, MOSCOSO, Alexis, GROTHE, Michel j., REYNÉS-LLOMPART, Gabriel, RODRÍGUEZ BEL, Laura, GASCÓN-BAYARRI, Jordi, SOBRIDO, María jesús, AGUIAR, Pablo. Hypometabolism and atrophy patterns associated with Niemann-Pick type C. _EJNMMI Research_. 2025. Vol. 15. [consulta: 27 de gener de 2026]. ISSN: 2191-219X. [Disponible a: https://hdl.handle.net/2445/221340]