We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.
We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.
Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.
Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.
The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.
Le diagnostic clinique de maladie de Creutzfeldt-Jakob (MCJ) est fondé sur la triadeclassique d’une démence progressantrapidement, de myoclonus et d’anomalies de l’ÉEG. La mutation 200k du gène codant le PrP, situé sur le bras court du chromosome 20, est en cause chez plus de 70% des famillesatteintes de MCJ dans le monde.
Nous rapportons l’observation d’un patient qui a présenté unetoux sèche persistante et les signesclassiques d’une MCJ, soit un déclin cognitif sévère, des signes cérébelleux et des secoussesmyocloniques avec décès en quelquessemaines. Le dépistage de mutations dans le gène PRNP a mis en évidence la mutation ponctuelle 200k. La mère du patient était mortevingtansauparavant et un examenneuropathologiqueavait confirmé qu’il s’agissait d’une MCJ. La maladie s’était manifestée chez elle par uneataxieprogressantrapidement, des myoclonies, une démence, des hallucinations visuelles et la même toux sèche persistante.
La toux sèche persistantecomme manifestation d’une MCJ familiale chez ce patient estinusitée. Uneétiologie neurologiquedevraitêtre recherchée siunetouxpersistantedemeureinexpliquée.
To send this article to your Kindle, first ensure no-reply@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 sending to your Kindle. Find out more about sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent 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.
To send this article to your Dropbox account, please select one or more formats and 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 <service> account. Find out more about sending content to Dropbox.
To send this article to your Google Drive account, please select one or more formats and 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 <service> account. Find out more about sending content to Google Drive.
Email your librarian or administrator to recommend adding this journal to your organisation's collection.
