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Neuroradiology. 1995 Oct;37(7):531-4.

Serial MRI in early Creutzfeldt-Jacob disease with a point mutation of prion protein at codon 180.

Author information

1
First Department of Internal Medicine, Osaka Medical College, Japan.

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.

PMID:
8570047
DOI:
10.1007/bf00593711
[Indexed for MEDLINE]

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