Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.
Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.
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DOI：
10.1097/nen.0b013e3181ffc39c
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发表时间：
2010-12
影响因子：
3.2
通讯作者：
Geschwind MD
中科院分区：
文献类型：
--
作者：
Tartaglia MC;Thai JN;See T;Kuo A;Harbaugh R;Raudabaugh B;Cali I;Sattavat M;Sanchez H;DeArmond SJ;Geschwind MD
Human prion diseases can be caused by mutations in the prion protein gene PRNP. Prion disease with mutations at codon 188 has been reported in 6 cases, but only 1 had the T188R mutation and it was not pathologically confirmed. We report the clinical, neuropsychological, imaging, genetic, and neuropathological features of a patient with familial Creutzfeldt-Jakob Disease (CJD), associated with a very rare PRNP mutation at T188R. The patient presented with prominent behavioral changes in addition to the more typical cognitive and motor impairments seen in sporadic CJD. The autopsy confirmed prion disease pathology. This case supports the pathogenicity of the T188 PRNP mutation, demonstrates the variability of clinical phenotypes associated with certain mutations and emphasizes the importance of testing for genetic prion disease in cases of apparently sporadic atypical dementia.
