"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.
Identifieur interne : 003B93 ( Ncbi/Merge ); précédent : 003B92; suivant : 003B94"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.
Auteurs : Maria Stamelou [Royaume-Uni] ; Niall P. Quinn ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adenosine Triphosphatases (genetics), Humans, Intercellular Signaling Peptides and Proteins (genetics), Multiple System Atrophy (diagnosis), Multiple System Atrophy (genetics), Mutation (genetics), Nerve Degeneration (diagnosis), Nerve Degeneration (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), PubMed (statistics & numerical data), Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), tau Proteins (genetics).
- MESH :
- chemical , genetics : Adenosine Triphosphatases, Intercellular Signaling Peptides and Proteins, tau Proteins.
- diagnosis : Multiple System Atrophy, Nerve Degeneration, Parkinson Disease, Supranuclear Palsy, Progressive.
- genetics : Multiple System Atrophy, Mutation, Nerve Degeneration, Parkinson Disease, Supranuclear Palsy, Progressive.
- statistics & numerical data : PubMed.
- Humans.
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.
DOI: 10.1002/mds.25509
PubMed: 23720239
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pubmed:23720239Le document en format XML
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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. 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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. 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Bhatia</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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