HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.

Abstract
The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium-potassium pump (Na(+)/K(+)-ATPase). Intriguingly, patients with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na(+)/K(+)-ATPases, and we discuss their relevance to the complex patient symptoms and manifestations. Thus, it is interesting that mouse models targeting a specific α-isoform cause different, although still comparable, phenotypes consistent with classical symptoms and other manifestations observed in FHM2 and RDP patients. This review highlights that use of mouse models have broad potentials for future research concerning migraine and dystonia-related diseases, which will contribute towards understanding the, yet unknown, pathophysiologies.
AuthorsPernille Bøttger, Canan Doğanlı, Karin Lykke-Hartmann
JournalNeuroscience and biobehavioral reviews (Neurosci Biobehav Rev) Vol. 36 Issue 2 Pg. 855-71 (Feb 2012) ISSN: 1873-7528 [Electronic] United States
PMID22067897 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2011 Elsevier Ltd. All rights reserved.
Chemical References
  • Sodium-Potassium-Exchanging ATPase
Topics
  • Animals
  • Dystonia (genetics, physiopathology)
  • Humans
  • Mice
  • Migraine Disorders (genetics, physiopathology)
  • Mutation (genetics)
  • Sodium-Potassium-Exchanging ATPase (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: