Reduced cerebral blood flow in genetic prion disease with PRNP D178N–129M mutation: An arterial spin labeling MRI study

Abstract The D178N mutation in the PRNP gene is associated with fatal familial insomnia and Creutzfeldt–Jakob disease (CJD). Typically, the D178N mutation associated with the 129M genotype is related to fatal familial insomnia while the same mutation associated with the 129V genotype is linked to fa...

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Bibliographic Details
Published in:Journal of clinical neuroscience 2015-01, Vol.22 (1), p.204-206
Main Authors: Chen, Shuai, Guan, Min, Shang, Jun-Kui, He, Shuang, Zhang, Mi-Lan, Ma, Ming-Ming, Zhang, Jie-Wen
Format: Article
Language:English
Subjects:
14-3-3 Proteins - cerebrospinal fluid
Arterial spin labeling
Basal Ganglia - pathology
Cerebral Arteries - pathology
Creutzfeldt-Jakob Syndrome - genetics
Creutzfeldt-Jakob Syndrome - pathology
Creutzfeldt–Jakob disease
Dementia - etiology
Dementia - psychology
Diffusion Magnetic Resonance Imaging
Fatal familial insomnia
Female
Humans
Insomnia, Fatal Familial - genetics
Magnetic Resonance Imaging - methods
Middle Aged
Mutation - genetics
Neuroimaging - methods
Neurology
Prion Diseases - genetics
Prion Diseases - pathology
Prion gene
Prion Proteins
Prions - genetics
Thalamus - pathology
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Summary:Abstract The D178N mutation in the PRNP gene is associated with fatal familial insomnia and Creutzfeldt–Jakob disease (CJD). Typically, the D178N mutation associated with the 129M genotype is related to fatal familial insomnia while the same mutation associated with the 129V genotype is linked to familial CJD. We describe a D178N-129M haplotype in a patient with early, severe dementia and late-onset minor insomnia, mainly presenting as the CJD phenotype. Cerebrospinal fluid 14-3-3 protein was positive. Diffusion weighted imaging demonstrated widespread cortical ribbon-like high signal intensity, which was also seen in the basal ganglia bilaterally. Arterial spin labeling (ASL) MRI showed severe hypoperfusion in the cerebral cortex, basal ganglia and thalami but this was least marked in the thalami. Neuroimaging abnormalities were more prominent in the cerebral cortex than the thalamus, which was in line with the clinical picture of severe dementia rather than insomnia. ASL-MRI seems to be a useful tool for the detection and follow-up of perfusion changes in patients and asymptomatic carriers harboring the PRNP mutation.
ISSN:0967-5868
1532-2653
DOI:10.1016/j.jocn.2014.05.040