TY - JOUR
T1 - Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene
AU - Tsuboi, Yoshio
AU - Baba, Yasuhiko
AU - Doh-Ura, Katsumi
AU - Imamura, Akiko
AU - Fujioka, Shinsuke
AU - Yamada, Tatsuo
PY - 2005/5/15
Y1 - 2005/5/15
N2 - Magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) has been reported to be a useful tool for early diagnosis of sporadic Creutzfeldt-Jakob disease (CJD). We report MRI findings with DWI, as well as with fluid-attenuated inversion recovery (FLAIR) and T1-weighted imaging (T1WI), in a case of familial CJD with a mutation at codon 200 of the prion protein gene. DWI in this patient showed high signal intensity in the basal ganglia and the cerebral cortex, similar to findings in sporadic CJD. In addition, T1WI showed areas of high signal intensity bilaterally in the globus pallidus. Despite the clinical diversity and atypical laboratory findings seen in familial CJD with the codon 200 mutation, these neuroimaging studies suggest that common regional distributions and a common pathogenesis might underlie the clinical progression both in sporadic CJD and in familial CJD with the codon 200 mutation in the prion protein gene. DWI abnormalities may be characteristic features that should be considered in the diagnosis of familial as well as of sporadic CJD.
AB - Magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) has been reported to be a useful tool for early diagnosis of sporadic Creutzfeldt-Jakob disease (CJD). We report MRI findings with DWI, as well as with fluid-attenuated inversion recovery (FLAIR) and T1-weighted imaging (T1WI), in a case of familial CJD with a mutation at codon 200 of the prion protein gene. DWI in this patient showed high signal intensity in the basal ganglia and the cerebral cortex, similar to findings in sporadic CJD. In addition, T1WI showed areas of high signal intensity bilaterally in the globus pallidus. Despite the clinical diversity and atypical laboratory findings seen in familial CJD with the codon 200 mutation, these neuroimaging studies suggest that common regional distributions and a common pathogenesis might underlie the clinical progression both in sporadic CJD and in familial CJD with the codon 200 mutation in the prion protein gene. DWI abnormalities may be characteristic features that should be considered in the diagnosis of familial as well as of sporadic CJD.
KW - Creutzfeldt-Jakob disease
KW - Diagnostic methods
KW - Diffusion-weighted imaging
KW - Familial
KW - Magnetic resonance imaging
KW - Prion disease
KW - Prion gene mutation
UR - http://www.scopus.com/inward/record.url?scp=17844400287&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=17844400287&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2005.01.006
DO - 10.1016/j.jns.2005.01.006
M3 - Article
C2 - 15850581
AN - SCOPUS:17844400287
VL - 232
SP - 45
EP - 49
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -