Hereditary parkinsonism: Parkinson disease look‐alikes—An algorithm for clinicians to “PARK” genes and beyond
Identifieur interne : 000313 ( Istex/Corpus ); précédent : 000312; suivant : 000314Hereditary parkinsonism: Parkinson disease look‐alikes—An algorithm for clinicians to “PARK” genes and beyond
Auteurs : Christine Klein ; Susanne A. Schneider ; Anthony E. LangSource :
- Movement Disorders [ 0885-3185 ] ; 2009-10-30.
English descriptors
- KwdEn :
Abstract
In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well‐established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the “PARK” genes; (ii) classical parkinsonism due to mutations in “other than‐PARK” genes or yet other genes where parkinsonism may be a well‐recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22675
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<notesStmt><note type="content">*Potential conflict of interest: CK was supported by Volkswagen Foundation, Hermann and Lilly Schilling Foundation, Deutsche Forschungsgemeinschaft DFG; SAS was supported by the Brain Research Trust, UK, a grant by the University Lübeck and the Novartis Foundation for Therapeutic Research. AEL: Grants: Canadian Institutes of Health Research, Dystonia Medical Research Foundation, Michael J. Fox Foundation, National Parkinson Foundation, Ontario Problem Gambling Reseach Centre, Parkinson's Disease Foundation, Taro.</note>
<note type="content">*This article is part of the journal's online CME program. The CME activity including form, can be found online at http://www.movementdisorders.org/education/journalcme/</note>
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<fundingInfo><fundingAgency>University Lübeck and the Novartis Foundation for Therapeutic Research</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Canadian Institutes of Health Research</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Dystonia Medical Research Foundation</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Michael J. Fox Foundation</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>National Parkinson Foundation</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Ontario Problem Gambling Research Centre</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Parkinson's Disease Foundation</fundingAgency>
</fundingInfo>
<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<p>In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well‐established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the “PARK” genes; (ii) classical parkinsonism due to mutations in “other than‐PARK” genes or yet other genes where parkinsonism may be a well‐recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous <i>GBA</i>
mutations, mitochondrial gene mutations. Group III comprises mutations in the <i>FMR1</i>
, <i>MAPT</i>
, <i>GRN</i>
, <i>ATP7B</i>
, <i>PANK2</i>
, <i>FBXO7</i>
, <i>CHAC</i>
, <i>FTL1</i>
, <i>Huntingtin</i>
, <i>JPH3</i>
genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society</p>
</abstract>
</abstractGroup>
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<noteGroup><note xml:id="fn1"><p>Potential conflict of interest: CK was supported by Volkswagen Foundation, Hermann and Lilly Schilling Foundation, Deutsche Forschungsgemeinschaft DFG; SAS was supported by the Brain Research Trust, UK, a grant by the University Lübeck and the Novartis Foundation for Therapeutic Research. AEL: Grants: Canadian Institutes of Health Research, Dystonia Medical Research Foundation, Michael J. Fox Foundation, National Parkinson Foundation, Ontario Problem Gambling Reseach Centre, Parkinson's Disease Foundation, Taro.</p>
</note>
<note xml:id="fn2"><p>This article is part of the journal's online CME program. The CME activity including form, can be found online at <url href="http://www.movementdisorders.org/education/journalcme/">http://www.movementdisorders.org/education/journalcme/</url>
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<!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Hereditary parkinsonism: Parkinson disease look‐alikes—An algorithm for clinicians to “PARK” genes and beyond</title>
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<titleInfo type="abbreviated" lang="en"><title>Algorithm for Clinicians to “PARK” Genes</title>
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<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Hereditary parkinsonism: Parkinson disease look‐alikes—An algorithm for clinicians to “</title>
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<name type="personal"><namePart type="given">Christine</namePart>
<namePart type="family">Klein</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation>
<affiliation>Department of Neurology, Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Canada</affiliation>
<description>Correspondence: Department of Neurology, University of Lübeck, Ratzeburger Allee 160, Lübeck 23538, Germany</description>
<role><roleTerm type="text">author</roleTerm>
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<name type="personal"><namePart type="given">Susanne A.</namePart>
<namePart type="family">Schneider</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation>
<affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, England</affiliation>
<role><roleTerm type="text">author</roleTerm>
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</name>
<name type="personal"><namePart type="given">Anthony E.</namePart>
<namePart type="family">Lang</namePart>
<namePart type="termsOfAddress">MD, FRCPC</namePart>
<affiliation>Department of Neurology, Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Canada</affiliation>
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<abstract lang="en">In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well‐established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the “PARK” genes; (ii) classical parkinsonism due to mutations in “other than‐PARK” genes or yet other genes where parkinsonism may be a well‐recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society</abstract>
<note type="content">*Potential conflict of interest: CK was supported by Volkswagen Foundation, Hermann and Lilly Schilling Foundation, Deutsche Forschungsgemeinschaft DFG; SAS was supported by the Brain Research Trust, UK, a grant by the University Lübeck and the Novartis Foundation for Therapeutic Research. AEL: Grants: Canadian Institutes of Health Research, Dystonia Medical Research Foundation, Michael J. Fox Foundation, National Parkinson Foundation, Ontario Problem Gambling Reseach Centre, Parkinson's Disease Foundation, Taro.</note>
<note type="content">*This article is part of the journal's online CME program. The CME activity including form, can be found online at http://www.movementdisorders.org/education/journalcme/</note>
<note type="funding">Volkswagen Foundation</note>
<note type="funding">Career Development Award</note>
<note type="funding">Hermann and Lilly Schilling Foundation</note>
<note type="funding">Hermann and Lilly Schilling Foundation</note>
<note type="funding">Deutsche Forschungsgemeinschaft</note>
<note type="funding">University Lübeck and the Novartis Foundation for Therapeutic Research</note>
<note type="funding">Canadian Institutes of Health Research</note>
<note type="funding">Dystonia Medical Research Foundation</note>
<note type="funding">Michael J. Fox Foundation</note>
<note type="funding">National Parkinson Foundation</note>
<note type="funding">Ontario Problem Gambling Research Centre</note>
<note type="funding">Parkinson's Disease Foundation</note>
<subject lang="en"><genre>Keywords</genre>
<topic>Parkinson</topic>
<topic>PARK</topic>
<topic>genetics</topic>
<topic>dystonia</topic>
<topic>classification</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
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<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2009</date>
<detail type="volume"><caption>vol.</caption>
<number>24</number>
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<detail type="issue"><caption>no.</caption>
<number>14</number>
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<extent unit="pages"><start>2042</start>
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