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Title: Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.
Austin Authors: Villemagne, Victor L ;Velakoulis, D;Doré, Vincent ;Bozinoski, S;Masters, Colin L ;Rowe, Christopher C ;Walterfang, Mark
Affiliation: Department of Molecular Imaging and Therapy, Centre for PET, Austin Health, Heidelberg, Victoria, Australia
Neuropsychiatry Unit, Royal Melbourne Hospital & Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, Victoria, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Victoria, Australia
CSIRO Preventative Health Flagship: The Australian e-Health Research Centre - Melbourne, Melbourne, Victoria, Australia
Issue Date: May-2019 2019-01-28
Publication information: European journal of nuclear medicine and molecular imaging 2019; 46(5): 1132-1138
Abstract: Niemann-Pick type C (NPC) is a cholesterol storage disease characterized by disruption in the endosomal-lysosomal transport system that leads to the accumulation of cholesterol and glycolipids in lysosomes. Developmental cognitive delay and progressive motor and cognitive impairment are characteristic of the disease. Tau accumulation has been reported in some NPC patients. We investigated the presence of tau and Aβ-amyloid deposits in a group of NPC patients and for comparison in age-matched healthy controls (HC). Eight NPC patients and seven HC were included in the study. Participants underwent tau imaging with 18F-AV1451 and amyloid imaging with 11C-PiB. Both 18F-AV1451 and 11C-PiB standardized uptake value ratios were generated using the cerebellar cortex as the reference region. Associations between imaging results, and clinical and neurocognitive parameters were assessed through nonparametric analyses. All participants were Aβ-negative. Four NPC patients presented with high tau burden in the brain. A 21-year-old female patient and a 40-year-old male patient showed high neocortical tau burden in a pattern different from that observed in patients with Alzheimer's disease, while the same 40-year-old male patient, a 40-year-old female patient and a 50-year-old female patient showed high regional tau burden in the mesial temporal cortex. Spearman's correlation analysis showed an association between tau burden in the mesial temporal lobe and age (p = 0.022), and age at symptom onset (p = 0.009), and between frontotemporal tau and duration of symptoms (p = 0.027). There were no correlations between global and regional tau and cognitive parameters. Four of eight NPC patients showed tau deposition in the brain. The results of our exploratory study suggest that while tau deposits do not affect cognitive performance, tau deposits are associated with measures of disease onset and progression. Further studies in a larger cohort of NPC patients are needed to confirm these initial findings.
DOI: 10.1007/s00259-019-4273-7
ORCID: 0000-0002-5832-9875
PubMed URL: 30690666
Type: Journal Article
Subjects: Amyloid imaging
Cognitive impairment
Disease severity
Niemann-Pick type C disease
Tau imaging
Tau pathology
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