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Updated: Aug 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Hereditary Creutzfeldt-Jakob disease caused by a mutation at codon 200]
A Bertrand1, L Martinez-Almoyna, T De Broucker
1Service de Neurologie, Hôpital Delafontaine, Saint-Denis, France.
Introduction:
A typical case of genetic Creutzfeldt-Jakob disease in a 39-year-old woman without remarkable familial history is described.
Case Report:
Initial symptoms were disequilibrium, cerebellar syndrome and complex neurovisual complaints. EEG was pseudoperiodic. NSE and 14-3-3 protein levels were elevated in the CSF. MRI showed anomalies of the anterior parts of the putamen and the caudate nuclei on the MRI T2 FLAIR sequence, mainly on diffusion sequences. A quinacrine test did not yield any effect. Death eventually occurred 8 months after the first symptoms.
Conclusion:
Current data on genetic Creutzfeldt-Jakob disease are briefly reviewed.
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Translation Produces the Building Blocks of Life
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