Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms. Issue 6 (13th June 2018)

• Record Type: Journal Article
• Authors: Abela, Lucia; Kurian, Manju A.
• Is Part Of: Journal of inherited metabolic disease. Volume 41:Issue 6(2018)
• Page Start: 1077
• Page End: 1091
• Publication Date: 2018-06-13
• Subjects: Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1007/s10545-018-0205-0
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: Movement disorders comprise a group of heterogeneous diseases with often complex clinical phenotypes. Overlapping symptoms and a lack of diagnostic biomarkers may hamper making a definitive diagnosis. Next‐generation sequencing techniques have substantially contributed to unraveling genetic etiologies underlying movement disorders and thereby improved diagnoses. Defects in dopaminergic signaling in postsynaptic striatal medium spiny neurons are emerging as a pathogenic mechanism in a number of newly identified hyperkinetic movement disorders. Several of the causative genes encode components of the cAMP pathway, a critical postsynaptic signaling pathway in medium spiny neurons. Here, we review the clinical presentation, genetic findings, and disease mechanisms that characterize these genetic postsynaptic movement disorders.