Autopsy-Proven Creutzfeldt-Jakob Disease with a Codon 180 Mutation Showing Dissociation between Diffusion-Weighted Magnetic Resonance Imaging and Single-Photon Emission Computed Tomography Findings

Familial Creutzfeldt-Jakob Disease with a V180I Mutation: Comparative Analysis with Pathological Findings and Diffusion-Weighted Images

“…Fourth, microglial activation was subtle. These results were consistent with the unique characterizations from previous reports [7][8][9] . More than 30 CJD patients have undergone brain biopsies, but only 3 reports [10][11][12] discussed the correlation between neuropathological and DWI findings in brain biopsy tissue.…”

An autopsied case of V180I Creutzfeldt‐Jakob disease presenting with panencephalopathic‐type pathology and a characteristic prion protein type

“…However, the problem of whether the point mutation may or may not be causative of CJD is still unresolved, because CJD families with this mutation have not been observed so far. Although there have been some clinical reports of V180I CJD, 12,14 autopsied case reports have been limited to six cases, 6,8,10,11 including our previously reported case 7 and this present case (Table 1). While they have not been included in the present investigation, there is also a case report of autopsied CJD with double mutations of codon 180 and 232 21 and another definite V180I CJD case proven by brain biopsy with a disease duration of 13 months 13 .…”

“…Because parkinsonism, which is a rare symptom in sporadic CJD, often occurs in V180I CJD cases (including the present case), 6–8,10 it is important to discriminate between neurodegenerative disorders presenting dementia with parkinsonism and V180I CJD. Spongiform degeneration and PrP deposition were observed in the striatum of the present case, and it was estimated that this caused the parkinsonism.…”

“…While they have not been included in the present investigation, there is also a case report of autopsied CJD with double mutations of codon 180 and 232 21 and another definite V180I CJD case proven by brain biopsy with a disease duration of 13 months 13 . According to the case reports, the clinical features of V180I CJD were considerably different from those of sporadic CJD, as follows: (i) older age onset; (ii) prolonged disease duration with a slower progression course; (iii) unique clinical symptoms such as frequent higher cortical dysfunction, which was less frequent in sporadic CJD, and a less prominent myoclonus compared with the generalized form in sporadic CJD; (iv) a lower positive rate of brain‐specific proteins such as NSE, total tau protein and 14‐3‐3 protein in CSF; (v) no PSWCs on EEG throughout the disease course; and (vi) a lack of affected family members and appearance as a sporadic neurodegenerative disorder 6–14 . These clinical features make a pre‐mortem diagnosis of CJD difficult without PrP gene analysis and the cases may be misdiagnosed as neurodegenerative disorders with dementia, such as corticobasal degeneration or Alzheimer's disease 12 …”

“…CJD with a point mutation of valine (Val) to isoleucine (Ile) at codon 180 in the PrP gene (V180I CJD) is a type of genetic CJD with no relevant family history 6–14 . V180I CJD is extremely rare in European and North American CJD patients, 3 but it is relatively common in Japanese genetic CJD patients 12 .…”