"Atypical" atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy—A diagnostic guide. Issue 9 (29th May 2013)

• Record Type: Journal Article
• Authors: Stamelou, Maria; Quinn, Niall P.; Bhatia, Kailash P.
• Is Part Of: Movement disorders. Volume 28:Issue 9(2013)
• Page Start: 1184
• Page End: 1199
• Publication Date: 2013-05-29
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25509
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p>Recently, a number of genetic parkinsonian conditions have been recognized that share some features with the clinical syndromes of progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA), the classic phenotypic templates of atypical parkinsonism. For example, patients with progranulin, dynactin, or <italic>ATP13A</italic> gene mutations may have vertical supranuclear gaze palsy. This has made differential diagnosis difficult for practitioners. In this review, our goal is to make clinicians aware of these genetic disorders and provide clinical clues and syndromic associations, as well as investigative features, that may help in diagnosing these disorders. The correct identification of these patients has important clinical, therapeutic, and research implications. © 2013 <italic>Movement</italic> Disorder Society</p> </abstract>