Quantitative Magnetic Resonance Abnormalities in Creutzfeldt-Jakob Disease and Fatal Insomnia.
Quantitative neuroimaging might unveil abnormalities in prion diseases that are not perceivable at visual inspection. On the other hand, scarce studies have quantified volumetric changes in prion diseases.



We aim to characterize volumetric and diffusion tensor imaging (DTI) changes in patients with prion diseases who presented with either Creutzfeldt-Jakob disease (CJD) or fatal insomnia (FI) phenotype.



Twenty patients with prion diseases- 15 with CJD and 5 with fatal insomnia (FI)- and 40 healthy controls were examined with a 3-Tesla magnetic resonance imaging scanner. Images were segmented and normalized with SPM12. DTI maps were obtained with FMRIB Software Library. Whole-brain voxel-wise and region-of-interest analyses of volumetric and DTI changes were performed with SPM12. White matter (WM) changes were also analyzed with tract-based spatial statistics. Semiquantitive assessment of neuropathological parameters was compared with DTI metrics in thalamus from 11 patients.



Patients with CJD and FI presented significant atrophy in thalamus and cerebellum. In CJD, mean diffusivity (MD) was decreased in striatum and increased in subcortical WM, while both increased and decreased values were observed across different thalamic nuclei. In FI, MD was increased in thalamus and cerebellum. Spongiform change and PrPSc deposition were more intense in thalamus in CJD than in FI, although no significant correlations arose with MD values in the nuclei studied.



Volumetric and DTI abnormalities suggest a central common role of the thalamus in prion diseases. We report, for the first time, quantitative MRI changes in FI, and provide further evidence of WM involvement in prion diseases.
Neurological Tissue Bank of the Biobanc-Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Oriol
O
Grau-Rivera
Magnetic Resonance Image core facility of IDIBAPS, Barcelona, Spain.
Anna
A
Calvo
Magnetic Resonance Image core facility of IDIBAPS, Barcelona, Spain.|Radiology Department, Image Diagnosis Center, Hospital Clínic, Barcelona, Spain.
Núria
N
Bargalló
Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
Gemma C
GC
Monté
General Subdirectorate of Surveillance and Response to Emergencies in Public Health, Department of Public Health in Catalonia, Barcelona, Spain.
Carlos
C
Nos
Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
Albert
A
Lladó
Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
José Luis
JL
Molinuevo
Neurological Tissue Bank of the Biobanc-Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Ellen
E
Gelpi
Neurological Tissue Bank of the Biobanc-Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.|Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain.
Raquel
R
Sánchez-Valle
D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging*; D007562:Creutzfeldt-Jakob Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D056324:Diffusion Tensor Imaging; D005260:Female; D066128:Gray Matter / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009929:Organ Size; D010641:Phenotype; D011446:Prospective Studies; D007319:Sleep Initiation and Maintenance Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D066127:White Matter / Q000000981:diagnostic imaging
Creutzfeldt-Jakob syndrome; diffusion tensor imaging; fatal familial insomnia; neuroimaging; prion diseases