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Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carri...

Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carri...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5860a317bc2a45b3887bb8ac70eee5b7

Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

About this item

Full title

Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Publisher

England: BioMed Central Ltd

Journal title

Acta neuropathologica communications, 2019-03, Vol.7 (1), p.47-47, Article 47

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

First-degree family members refused genetic examination. [...]the case reported here differs from previously described cases because of the presence of a rapid (6 months) cognitive decline in the mother’s patient that might suggest CJD. Table 1 Characteristics of CJD patients carrying the R208H-129 VV haplotype CJD casesa 1 2 3 4 Country France Cze...

Alternative Titles

Full title

Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_5860a317bc2a45b3887bb8ac70eee5b7

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5860a317bc2a45b3887bb8ac70eee5b7

Other Identifiers

ISSN

2051-5960

E-ISSN

2051-5960

DOI

10.1186/s40478-019-0699-1

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