Familial Creutzfeldt-Jakob disease with codon 200 mutation presenting as thalamic syndrome: Diagnosis by single photon emission computed tomography using 99mTc-ethyl cysteinate dimer

Internal Medicine

Volumn 47, Issue 1, 2008, Pages 65-67

  Konno, Shingo ^a   Murata, Mayumi ^a   Toda, Takahiro ^a   Yoshii, Yasuhiro ^a   Nakazora, Hiroshi ^a   Nomoto, Nobuatsu ^a   Sugimoto, Hideki ^a   Nemoto, Hiroshi ^a   Nakata, Nabuo ^a   Fijioka, Toshiki ^a   Kurihara, Teruyuki ^a  

^a TOHO UNIVERSITY OHASHI MEDICAL CENTER   (Japan)

Author keywords

Diffusion weighted MRI; E200K; Familial Creutzfeldt Jakob disease; SPECT; Thalamic syndrome

Indexed keywords

CYSTEINE ETHYL ESTER TC 99M; GLUTAMINE; MEPACRINE; METHIONINE; PRION PROTEIN; PROTEIN 14 3 3;

ADULT; AKINETIC MUTISM; ALPHA RHYTHM; ARTICLE; ATAXIA; BRAIN PERFUSION; CASE REPORT; CAUDATE NUCLEUS; CEREBROSPINAL FLUID EXAMINATION; CHOREA; CLINICAL FEATURE; CODON; CONFUSION; CREUTZFELDT JAKOB DISEASE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DIFFUSION WEIGHTED IMAGING; DISEASE COURSE; DRUG TREATMENT FAILURE; DYSARTHRIA; DYSESTHESIA; EARLY DIAGNOSIS; ELECTROCARDIOGRAM; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC POLYMORPHISM; GENOME ANALYSIS; HUMAN; HYPESTHESIA; IMAGE ANALYSIS; INSOMNIA; INTERMETHOD COMPARISON; INVOLUNTARY MOVEMENT; JAPANESE; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PROTEIN CEREBROSPINAL FLUID LEVEL; PSYCHOLOGICAL RATING SCALE; SENSORY DYSFUNCTION; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; THALAMUS; THETA RHYTHM; VIBRATION SENSE;

CODON; CREUTZFELDT-JAKOB SYNDROME; CYSTEINE; FEMALE; HUMANS; MIDDLE AGED; MUTATION; RADIOPHARMACEUTICALS; SYNDROME; TECHNETIUM; THALAMIC DISEASES; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 38349014653     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.47.0307     Document Type: Article

References (15)

1. Inoue I, Kitamoto T, Doh-ura K, Shii H, Goto I, Tateishi J. Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene. Neurology 44: 299-301, 1994.
2. Chapman J, Arlazoroff A, Goldfarb LG, et al. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200 (Lys) mutation. Neurology 46: 758-761, 1996.
3. Taratuto AL, Piccardo P, Reich EG, et al. Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. Neurology 58: 362-367, 2002.
4. Shibuya S, Shin R-W, Higuchi J, Tateishi J, Kitamoto T. Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease. Ann Neurol 43: 826-828, 1998.
5. Dejerine J, Roussy G. Le syndrome thalamique. Rev Neurol (Paris) 14: 521-532, 1906.
6. Montagna P, Gambetti P, Cortelli P, Lugaresi E. Familial and sporadic fatal insomnia. Lancet Neurol 2: 167-176, 2003.
7. Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 39: 767-778, 1996.
8. Parchi P, Capellari S, Chen SG, et al. Typing prion isoforms. Nature 386: 232-234, 1997.
9. Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46: 224-233, 1999.
10. Collinge J, Sidle KC, Meads J, Ironside J, Hill AF. Molecular analysis of prion strain variation and the aetiology of "new variant" CJD. Nature 383: 685-690, 1996.
11. Hill AF, Joiner S, Wadsworth JD, et al. Molecular classification of sporadic Creutzfeldt-Jakob disease. Brain 126: 1333-1346, 2003.
12. Parchi P, Capellari S, Chin S, et al. A subtype of sporadic prion disease mimicking fatal familial insomnia. Neurology 52: 1757-1763, 1999.
13. Mastrianni JA, Nixon R, Layzer R, et al. Prion protein conformation in a patient with sporadic fatal insomnia. N Engl J Med 340: 1630-1638, 1999.
14. Perani D, Cortelli P, Lucignani G, et al. [18F] FDG PET in fatal familial insomnia: the functional effects of thalamic lesions. Neurology 43: 2565-2269, 1993.
15. Hamaguchi T, Kitamoto T, Sato T, et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 64: 643-648, 2005.