Abstract
We report a 66-year-old woman with histologically diagnosed Creutzfeldt-Jacob disease (CJD), followed with MRI from an early clinical stage. MRI demonstrated expansion of the high cortical signal on T2-weighted images, which differs from previous MRI reports of CJD. This patient followed an atypical clinical course: 16 months had passed before she developed akinetic mutism, and periodic sharp waves had not been detected on EEG after 2 years in spite of her akinetic mutism. Brain biopsy showed primary spongiform changes in the grey matter, and a point mutation of the prion protein gene at codon 180 was discovered using polymerase chain reaction direct sequencing and Tth 111 I cutting. This is the first case with the point mutation of the codon 180 variant with an atypical clinical course and characteristic MRI findings.
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References
Prusiner SB (1991) Molecular biology of prion disease. Science 252: 1515–1522
Hsiao K, Baker HF, Crow TJ, Poutler M, Owen F, Terwillinger JD, et al (1989) Linkage of prion protein missense variant to Gerstmann-Straussler syndrome. Nature 338: 342–345
Doh-ura K, Tatcishi J, Sasaki H, Kitamoto T, Sasaki Y (1989) Pro-Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome. Biochem Biophys Res Commun 163: 974–979
Goldfarb LG, Brown P, Goldgaber D, et al (1990) Identical mutation in unrelated patients with Creutzfeldt-Jacob disease. Lancet 336: 174–175
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR (1991) New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jacob kindred. Lancet 337: 425
Kovanen J, Erkinjuntti T, Iivanainen M, Ketonen L, Haltia M, Sulkava R, et al (1985) Cerebral MR and CT imaging in Creutzfeldt-Jacob disease. J Comput Assist Tomogr 9: 125–128
Pearl GS, Anderson RE (1989) Creutzfeldt-Jacob disease: high caudate signal on magnetic resonance imaging. South Med J 82: 1177–1180
Milton WJ, Atlas SW, Lavi E, Mollman JE (1991) Magnetic resonance imaging of Creutzfeldt-Jacob disease. Ann Neurol 29: 438–440
Joachim R, Andreas S, Michael H, Klaus UW, Peter B, Michael H (1992) Magnetic resonance imaging follow-up in Creutzfeldt-Jacob disease. J Neurol 239: 404–406
Barboriak DP, Provenzale JM, Boyko OB (1994) MR diagnosis of Creutzfeldt-Jacob disease: significance of high signal intensity of the basal ganglia. AJR 162: 137–140
Gertz HJ, Henkes H, Cervos-Navarro JC (1988) Creutzfeldt-Jacob disease: correlation of MRI and neuropathologic findings. Neurology 38: 1481–1482
Kruger H, Meesmann C, Rohrbach E, Muller J, Mertens HG (1990) Panencephalopathic type of Creutzfeldt-Jacob disease with primary extensive involvement of white matter. Eur Neurol 30: 115–119
Uchino A, Yoshinaga M, Shiokawa O, Hata H, Ohno M (1991) Serial MR imaging in Creutzfeldt-Jacob disease. Neuroradiology 33: 364–367
Mitutani T, Okumura A, Oda M, Siraki H (1981) Panencephalopathic type of Creutzfeldt-Jacob disease; primary involvement of the cerebral white matter. J Neurol Neurosurg Psychiatry 44: 103–115
Falcone S, Quencer RM, Bowen B, Bruce JH, Naidich TP (1992) Creutzfeldt-Jacob disease: focal symmetrical cortical involvement demonstrated by MR imaging. AJNR 13: 403–406
Kitamoto T, Doh-ura K, Kuramoto T, Miyazono M, Tateishi J (1992) The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system. Am J Pathol 141: 271–278
Doh-ura K, Kitamoto T, Sakaki Y, Tteishi J (1991) CJD discrepancy. Nature 353: 801–802
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Ishida, S., Sugino, M., Koizumi, N. et al. Serial MRI in early Creutzfeldt-Jacob disease with a point mutation of prion protein at codon 180. Neuroradiology 37, 531–534 (1995). https://doi.org/10.1007/BF00593711
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DOI: https://doi.org/10.1007/BF00593711