title: Familial Creutzfeldt-Jakob Disease with a codon 200 mutation presenting as thalamic syndrome: diagnosis by single photon emission computed tomography using (99m)Tc-ethyl cysteinate dimer.
abstract: The clinical features of familial Creutzfeldt-Jakob disease with a codon 200 point mutation [fCJD (E200K)] are similar to those of sporadic CJD (sCJD). MRI diffusion-weighted imaging (MRI-DWI) has been reported to be useful for the early diagnosis of CJD. We describe a Japanese fCJD (E200K) case in which thalamic symptoms were the initial manifestations. On admission, electroencephalography (ECG) showed no periodic synchronous discharge (PSD), and MRI showed no abnormalities. However, single photon emission computed tomography (SPECT) using (99m)Tc-ethyl cysteinate dimer ((99m)Tc-ECD) revealed hypoperfusion in the right thalamus. We conclude that the thalamic form of CJD tends to show no high-intensity area (HIA) by MRI-DWI, and that SPECT may be more useful for visualizing the affected area responsible for the thalamic symptoms at an early stage.
authors.affiliation: Division of Neurology, Department of Internal Medicine, Toho University Ohashi Medical Center, Tokyo. d500372@oha.toho-u.ac.jp
authors.forename: Shingo
authors.initials: S
authors.lastname: Konno
authors.forename: Mayumi
authors.initials: M
authors.lastname: Murata
authors.forename: Takahiro
authors.initials: T
authors.lastname: Toda
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yoshii
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakazora
authors.forename: Nobuatsu
authors.initials: N
authors.lastname: Nomoto
authors.forename: Hideki
authors.initials: H
authors.lastname: Sugimoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nemoto
authors.forename: Nobuo
authors.initials: N
authors.lastname: Wakata
authors.forename: Toshiki
authors.initials: T
authors.lastname: Fujioka
authors.forename: Teruyuki
authors.initials: T
authors.lastname: Kurihara
mesh_terms: D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D003545:Cysteine / Q000031:analogs & derivatives; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D019275:Radiopharmaceuticals; D013577:Syndrome; D013667:Technetium; D013786:Thalamic Diseases / Q000000981:diagnostic imaging*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D003062:Codon; D019275:Radiopharmaceuticals; D013667:Technetium; D003545:Cysteine