Novel inherited prion disease due to E146G mutation has distinctive clinicopathological and CSF biom...
Novel inherited prion disease due to E146G mutation has distinctive clinicopathological and CSF biomarker features
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Publisher
London: BMJ Publishing Group Ltd
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Language
English
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Publisher
London: BMJ Publishing Group Ltd
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Contents
Inherited prion diseases (IPD) are a phenotypically diverse group of neurodegenerative conditions caused by mutations in the prion protein gene, PRNP, causing accumulation of misfolded prion protein.We describe a novel IPD due to PRNP E146G mutation, presenting in a 50 year-old man with a relatively slowly progressive illness comprising dysarthria,...
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Full title
Novel inherited prion disease due to E146G mutation has distinctive clinicopathological and CSF biomarker features
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TN_cdi_proquest_journals_2892646474
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2892646474
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ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/JNNP-2023-ABN.75
