MovDisordV3, Main, Exploration, bibRecord, 001B07

Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

Identifieur interne : 001B07 ( Main/Exploration ); précédent : 001B06; suivant : 001B08

Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

Auteurs : Victoria Newsway [Royaume-Uni] ; Mark Fish [Royaume-Uni] ; Jonathan D. Rohrer [Royaume-Uni] ; Elisa Majounie [Royaume-Uni] ; Nigel Williams [Royaume-Uni] ; Melissa Hack [Royaume-Uni] ; Jason D. Warren [Royaume-Uni] ; Huw R. Morris [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-04-30.

RBID : ISTEX:D22771072C6ACFAEBDACDBA8CF334DA8B440967D

Descripteurs français

Pascal (Inist)
- Démence, Insuffisance respiratoire, Lévodopa, Mutation, Parkinsonisme, Pathologie du système nerveux, Regard, Trouble du comportement.

English descriptors

KwdEn :
- Arginine (genetics), Behavioral Symptoms (complications), Behavioral Symptoms (drug therapy), Behavioral Symptoms (genetics), Behavioral disorder, DNA Mutational Analysis, Dementia, Dopamine Agents (therapeutic use), Gaze, Glycine (genetics), Humans, Levodopa, Levodopa (therapeutic use), Male, Microtubule-Associated Proteins (genetics), Middle Aged, Mutation, Nervous system diseases, Neuropsychological Tests, Optic Nerve Diseases (complications), Optic Nerve Diseases (drug therapy), Optic Nerve Diseases (genetics), Parkinsonian Disorders (complications), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Perry syndrome, Respiratory Insufficiency (complications), Respiratory Insufficiency (drug therapy), Respiratory Insufficiency (genetics), Respiratory failure, dementia, gaze palsy, levodopa responsive, respiratory failure.
MESH :
- chemical , genetics : Arginine, Glycine, Microtubule-Associated Proteins.
- complications : Behavioral Symptoms, Optic Nerve Diseases, Parkinsonian Disorders, Respiratory Insufficiency.
- drug therapy : Behavioral Symptoms, Optic Nerve Diseases, Parkinsonian Disorders, Respiratory Insufficiency.
- genetics : Behavioral Symptoms, Optic Nerve Diseases, Parkinsonian Disorders, Respiratory Insufficiency.
- chemical , therapeutic use : Dopamine Agents, Levodopa.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Neuropsychological Tests.

Abstract

Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high‐dose levodopa therapy and respiratory support. The family was initially thought to have autosomal dominant behavioral variant frontotemporal dementia with Parkinsonism. This report expands the clinical definition of this distinctive syndrome. © 2009 Movement Disorder Society

Url:

DOI: 10.1002/mds.22950

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure</title>
<author><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name>
</author>
<author><name sortKey="Fish, Mark" sort="Fish, Mark" uniqKey="Fish M" first="Mark" last="Fish">Mark Fish</name>
</author>
<author><name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
</author>
<author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name>
</author>
<author><name sortKey="Williams, Nigel" sort="Williams, Nigel" uniqKey="Williams N" first="Nigel" last="Williams">Nigel Williams</name>
</author>
<author><name sortKey="Hack, Melissa" sort="Hack, Melissa" uniqKey="Hack M" first="Melissa" last="Hack">Melissa Hack</name>
</author>
<author><name sortKey="Warren, Jason D" sort="Warren, Jason D" uniqKey="Warren J" first="Jason D." last="Warren">Jason D. Warren</name>
</author>
<author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R." last="Morris">Huw R. Morris</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:D22771072C6ACFAEBDACDBA8CF334DA8B440967D</idno>
<date when="2010" year="2010">2010</date>
<idno type="doi">10.1002/mds.22950</idno>
<idno type="url">https://api.istex.fr/document/D22771072C6ACFAEBDACDBA8CF334DA8B440967D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001299</idno>
<idno type="wicri:Area/Istex/Curation">001299</idno>
<idno type="wicri:Area/Istex/Checkpoint">000786</idno>
<idno type="wicri:doubleKey">0885-3185:2010:Newsway V:perry:syndrome:due</idno>
<idno type="wicri:source">PMC</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610057</idno>
<idno type="RBID">PMC:4610057</idno>
<idno type="wicri:Area/Pmc/Corpus">000221</idno>
<idno type="wicri:Area/Pmc/Curation">000221</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000318</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001847</idno>
<idno type="wicri:Area/PubMed/Curation">001847</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001704</idno>
<idno type="wicri:Area/Ncbi/Merge">002B55</idno>
<idno type="wicri:Area/Ncbi/Curation">002B55</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002B55</idno>
<idno type="wicri:doubleKey">0885-3185:2010:Newsway V:perry:syndrome:due</idno>
<idno type="wicri:Area/Main/Merge">001F43</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:10-0233139</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000B61</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002158</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000905</idno>
<idno type="wicri:doubleKey">0885-3185:2010:Newsway V:perry:syndrome:due</idno>
<idno type="wicri:Area/Main/Merge">002492</idno>
<idno type="wicri:Area/Main/Curation">001B07</idno>
<idno type="wicri:Area/Main/Exploration">001B07</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure</title>
<author><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fish, Mark" sort="Fish, Mark" uniqKey="Fish M" first="Mark" last="Fish">Mark Fish</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Neurology Department, University Hospital of Wales, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Williams, Nigel" sort="Williams, Nigel" uniqKey="Williams N" first="Nigel" last="Williams">Nigel Williams</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hack, Melissa" sort="Hack, Melissa" uniqKey="Hack M" first="Melissa" last="Hack">Melissa Hack</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Gwent Sleep Centre, Royal Gwent Hospital, Newport, Gwent</wicri:regionArea>
<wicri:noRegion>Gwent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Warren, Jason D" sort="Warren, Jason D" uniqKey="Warren J" first="Jason D." last="Warren">Jason D. Warren</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R." last="Morris">Huw R. Morris</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2010-04-30">2010-04-30</date>
<biblScope unit="vol">25</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="767">767</biblScope>
<biblScope unit="page" to="770">770</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">D22771072C6ACFAEBDACDBA8CF334DA8B440967D</idno>
<idno type="DOI">10.1002/mds.22950</idno>
<idno type="ArticleID">MDS22950</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arginine (genetics)</term>
<term>Behavioral Symptoms (complications)</term>
<term>Behavioral Symptoms (drug therapy)</term>
<term>Behavioral Symptoms (genetics)</term>
<term>Behavioral disorder</term>
<term>DNA Mutational Analysis</term>
<term>Dementia</term>
<term>Dopamine Agents (therapeutic use)</term>
<term>Gaze</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>Levodopa</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Microtubule-Associated Proteins (genetics)</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Neuropsychological Tests</term>
<term>Optic Nerve Diseases (complications)</term>
<term>Optic Nerve Diseases (drug therapy)</term>
<term>Optic Nerve Diseases (genetics)</term>
<term>Parkinsonian Disorders (complications)</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Perry syndrome</term>
<term>Respiratory Insufficiency (complications)</term>
<term>Respiratory Insufficiency (drug therapy)</term>
<term>Respiratory Insufficiency (genetics)</term>
<term>Respiratory failure</term>
<term>dementia</term>
<term>gaze palsy</term>
<term>levodopa responsive</term>
<term>respiratory failure</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term>
<term>Glycine</term>
<term>Microtubule-Associated Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Behavioral Symptoms</term>
<term>Optic Nerve Diseases</term>
<term>Parkinsonian Disorders</term>
<term>Respiratory Insufficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Behavioral Symptoms</term>
<term>Optic Nerve Diseases</term>
<term>Parkinsonian Disorders</term>
<term>Respiratory Insufficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Behavioral Symptoms</term>
<term>Optic Nerve Diseases</term>
<term>Parkinsonian Disorders</term>
<term>Respiratory Insufficiency</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Dopamine Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neuropsychological Tests</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Démence</term>
<term>Insuffisance respiratoire</term>
<term>Lévodopa</term>
<term>Mutation</term>
<term>Parkinsonisme</term>
<term>Pathologie du   système nerveux</term>
<term>Regard</term>
<term>Trouble du comportement</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high‐dose levodopa therapy and respiratory support. The family was initially thought to have autosomal dominant behavioral variant frontotemporal dementia with Parkinsonism. This report expands the clinical definition of this distinctive syndrome. © 2009 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name>
</noRegion>
<name sortKey="Fish, Mark" sort="Fish, Mark" uniqKey="Fish M" first="Mark" last="Fish">Mark Fish</name>
<name sortKey="Hack, Melissa" sort="Hack, Melissa" uniqKey="Hack M" first="Melissa" last="Hack">Melissa Hack</name>
<name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name>
<name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R." last="Morris">Huw R. Morris</name>
<name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name>
<name sortKey="Warren, Jason D" sort="Warren, Jason D" uniqKey="Warren J" first="Jason D." last="Warren">Jason D. Warren</name>
<name sortKey="Williams, Nigel" sort="Williams, Nigel" uniqKey="Williams N" first="Nigel" last="Williams">Nigel Williams</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001B07 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001B07 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:D22771072C6ACFAEBDACDBA8CF334DA8B440967D
   |texte=   Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.