Skip to main content Accessibility help
×
Hostname: page-component-586b7cd67f-tf8b9 Total loading time: 0 Render date: 2024-11-26T05:26:46.488Z Has data issue: false hasContentIssue false

Chapter 26 - Genetic disorders producing symptomatic narcolepsy

from Section 5 - Narcolepsyand hypersomnias

Published online by Cambridge University Press:  05 November 2013

Paul Shaw
Affiliation:
University of Washington, St Louis
Mehdi Tafti
Affiliation:
University of Lausanne
Michael J. Thorpy
Affiliation:
Sleep-Wake Disorders Center, Albert Einstein College of Medicine, New York
Get access

Summary

Symptoms of narcolepsy can sometimes be seen during the course of a neurological disease process. In such instances, the term "symptomatic narcolepsy" is used, implying that the narcolepsy is a symptom of the underlying process rather than being idiopathic. Prader-Willi syndrome (PWS) is characterized by infantile hypotonia and failure to thrive, hyperphagia with early childhood obesity, hypogonadism, temperature instability, and developmental delay. Subjects with Niemann-Pick type C (NPC) disease have been reported to frequently display narcolepsy-like symptoms, including cataplexy. In Huntington's disease, disrupted hypocretin transmission was first suggested through the study of R6/2 mice, a murine model of Huntington's disease with accelerated disease progression. Further studies of symptomatic narcolepsy associated with inherited diseases are thus helpful to understand the pathophysiological mechanisms, especially in relation to the hypocretin impairments, for occurrence of excessive daytime sleepiness (EDS) and cataplexy.
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2013

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 [email protected] 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
×