"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 parkinson...

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Bibliographic Details
Published in:Movement disorders 2013-08, Vol.28 (9), p.1184-1199
Main Authors: Stamelou, Maria, Quinn, Niall P., Bhatia, Kailash P.
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
atypical parkinsonism
corticobasal degeneration
genetic
Humans
Intercellular Signaling Peptides and Proteins - genetics
Movement disorders
multiple system atrophy
Multiple System Atrophy - diagnosis
Multiple System Atrophy - genetics
Mutation - genetics
Nerve Degeneration - diagnosis
Nerve Degeneration - genetics
Parkinson Disease - diagnosis
Parkinson Disease - genetics
progressive supranuclear palsy
PSP look-alikes
PubMed - statistics & numerical data
Supranuclear Palsy, Progressive - diagnosis
Supranuclear Palsy, Progressive - genetics
tau Proteins - genetics
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Summary: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
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.25509