title: "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.
abstract: 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 ATP13A 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 Movement Disorder Society.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK. m.stamelou@ucl.ac.uk
authors.forename: Maria
authors.initials: M
authors.lastname: Stamelou
authors.forename: Niall P
authors.initials: NP
authors.lastname: Quinn
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D019578:Multiple System Atrophy / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000175:diagnosis / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics; D000077153:Progranulins; D039781:PubMed / Q000706:statistics & numerical data; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D016875:tau Proteins; D000251:Adenosine Triphosphatases
keywords: PSP look-alikes; atypical parkinsonism; corticobasal degeneration; genetic; multiple system atrophy; progressive supranuclear palsy