title: 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 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.
authors.affiliation: Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China.
authors.forename: Shuai
authors.initials: S
authors.lastname: Chen
authors.affiliation: Department of Radiology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China.
authors.forename: Min
authors.initials: M
authors.lastname: Guan
authors.affiliation: Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China.
authors.forename: Jun-Kui
authors.initials: JK
authors.lastname: Shang
authors.affiliation: Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: He
authors.affiliation: Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China.
authors.forename: Mi-Lan
authors.initials: ML
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China.
authors.forename: Ming-Ming
authors.initials: MM
authors.lastname: Ma
authors.affiliation: Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, Henan 450003, China. Electronic address: zhangjiewen9900@126.com.
authors.forename: Jie-Wen
authors.initials: JW
authors.lastname: Zhang
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D001479:Basal Ganglia / Q000473:pathology; D002536:Cerebral Arteries / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000473:pathology; D003704:Dementia / Q000209:etiology / Q000523:psychology; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D059906:Neuroimaging / Q000379:methods; D017096:Prion Diseases / Q000235:genetics* / Q000473:pathology*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D013788:Thalamus / Q000473:pathology
chemical_list: D048948:14-3-3 Proteins; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions
keywords: Arterial spin labeling; Creutzfeldt–Jakob disease; Fatal familial insomnia; Prion gene