Skip to main content Accessibility help
×
Hostname: page-component-7c8c6479df-ph5wq Total loading time: 0 Render date: 2024-03-19T11:10:35.858Z Has data issue: false hasContentIssue false

Case 38 - Young man with slow cognitive decline

Published online by Cambridge University Press:  16 May 2011

Serge Gauthier
Affiliation:
McGill University, Montréal
Pedro Rosa-Neto
Affiliation:
McGill University, Montréal
Get access

Summary

This chapter describes the slow cognitive decline using the case of a 31-year-old right-handed man (patient FA) who was referred for clinical evaluation due to a 3-year history of progressive deterioration of memory and academic performance as an example. Prion-related syndrome was part of the differential diagnosis. FA had a typical clinical presentation suggestive of Gerstmann-Straussler-Scheinker syndrome (GSSS), but the diagnosis could not be confirmed (absence of PRPN mutations). One-third of carriers of PRNP mutations have negative family history. P102L is a missense mutation that substitutes a lysine for a proline at codon 102. Although homozygosis for methionine at codon 129, like observed in the patient FA, confers vulnerability to prion diseases, the molecular pathology of this case remains unknown since PRPN genotype did not reveal a known PRPN GSSS mutation. Brain necropsy in the patient revealed typical GSSS neuropathological features, with amyloid plaques immunoreactive for PrP displaying multicentric morphology.
Type
Chapter
Information
Case Studies in Dementia
Common and Uncommon Presentations
, pp. 277 - 281
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×