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Panencephalitic Creutzfeldt-Jakob disease in a Chinese family. Unusual presentation with PrP codon 210 mutation and identification by PCR-SSCP.

Abstract：

:A point mutation at codon 210 (GTT to ATT) of the prion protein gene on chromosome 20 was found in a 48-year-old CJD-affected woman of a Chinese family. This affected woman had an early onset and long-duration form of CJD. Serial magnetic resonance image (MRI) analysis of this woman showed severe brain atrophy, prominent diffuse white matter degeneration, and subsequent mineralization of basal ganglia and thalamus. MR spectroscopy (1H) analysis elucidated the absence of peaks of choline, creatine and N-acetylaspartate. Using polymerase chain reaction and single-strand conformational polymorphism (PCR-SSCP) techniques, presymptomatic diagnosis of the second son of this woman showed that he has a similar codon mutation of prion gene as his mother.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Shyu WC,Hsu YD,Kao MC,Tsao WL

doi

10.1016/s0022-510x(96)00198-0

subject

Has Abstract

pub_date

1996-11-01 00:00:00

pages

176-80

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(96)00198-0

journal_volume

143

pub_type

杂志文章

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