Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes
Identifieur interne : 000370 ( France/Analysis ); précédent : 000369; suivant : 000371Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes
Auteurs : Ruth H. Walker [États-Unis] ; Adrian Danek [Allemagne] ; Carol Dobson-Stone [Australie] ; Renzo Guerrini [Italie] ; Hans H. Jung [Suisse] ; Anne-Louise Lafontaine [Canada] ; Luca Rampoldi [Italie] ; François Tison [France] ; Eva Andermann [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-11.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Acanthocytosis, Animals, Chorea, Chorea (genetics), Chorea (history), Chorea (pathology), Chorea (physiopathology), Chorea (therapy), Disease Models, Animal, History, 20th Century, History, 21st Century, Humans, Lung, Hyperlucent (genetics), Lung, Hyperlucent (pathology), Lung, Hyperlucent (physiopathology), Lung, Hyperlucent (therapy), MacLeod syndrome, Magnetic Resonance Imaging (methods), McLeod syndrome, Nervous system diseases, Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (history), Neurodegenerative Diseases (physiopathology), Neurodegenerative Diseases (therapy), Sex linked character, Vesicular Transport Proteins (genetics), acanthocytosis, chorea, chorea‐acanthocytosis, neuroacanthocytosis.
- MESH :
- chemical , genetics : Vesicular Transport Proteins.
- genetics : Chorea, Lung, Hyperlucent, Neurodegenerative Diseases.
- history : Chorea, Neurodegenerative Diseases.
- methods : Magnetic Resonance Imaging.
- pathology : Chorea, Lung, Hyperlucent.
- physiopathology : Chorea, Lung, Hyperlucent, Neurodegenerative Diseases.
- therapy : Chorea, Lung, Hyperlucent, Neurodegenerative Diseases.
- Animals, Disease Models, Animal, History, 20th Century, History, 21st Century, Humans.
Abstract
As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of “neuroacanthocytosis” has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorders is the presence of thorny deformations of circulating erythrocytes. This may be due to abnormal properties of red cell membranes, which could lead to insights into mech‐ anisms of neurodegeneration. Research approaches in this field, in addition to examining functions and protein interactions of the affected proteins with particular respect to neurons, have also drawn upon the expertise of hematologists and red cell membrane biologists. In this article, recent developments in the field are presented. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21108
Affiliations:
- Allemagne, Australie, Canada, France, Italie, Suisse, États-Unis
- Bavière, District de Haute-Bavière, Lombardie, Québec, État de New York
- Bordeaux, Milan, Montréal, Munich, Sydney
- Université McGill
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ISTEX:AD2DCFE7A20641CFD4CB6D27B997A71B30617F99Le document en format XML
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Walker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Dobson Tone, Carol" sort="Dobson Tone, Carol" uniqKey="Dobson Tone C" first="Carol" last="Dobson-Stone">Carol Dobson-Stone</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Garvan Institute of Medical Research, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Epilepsy, Neurophysiology, and Neurogenetics Unit, INPE University of Pisa and IRCCS Stella Maris, Pisa</wicri:regionArea><wicri:noRegion>Pisa</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. 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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="2006-11">2006-11</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1794">1794</biblScope><biblScope unit="page" to="1805">1805</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AD2DCFE7A20641CFD4CB6D27B997A71B30617F99</idno><idno type="DOI">10.1002/mds.21108</idno><idno type="ArticleID">MDS21108</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acanthocytosis</term><term>Animals</term><term>Chorea</term><term>Chorea (genetics)</term><term>Chorea (history)</term><term>Chorea (pathology)</term><term>Chorea (physiopathology)</term><term>Chorea (therapy)</term><term>Disease Models, Animal</term><term>History, 20th Century</term><term>History, 21st Century</term><term>Humans</term><term>Lung, Hyperlucent (genetics)</term><term>Lung, Hyperlucent (pathology)</term><term>Lung, Hyperlucent (physiopathology)</term><term>Lung, Hyperlucent (therapy)</term><term>MacLeod syndrome</term><term>Magnetic Resonance Imaging (methods)</term><term>McLeod syndrome</term><term>Nervous system diseases</term><term>Neurodegenerative Diseases (genetics)</term><term>Neurodegenerative Diseases (history)</term><term>Neurodegenerative Diseases (physiopathology)</term><term>Neurodegenerative Diseases (therapy)</term><term>Sex linked character</term><term>Vesicular Transport Proteins (genetics)</term><term>acanthocytosis</term><term>chorea</term><term>chorea‐acanthocytosis</term><term>neuroacanthocytosis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Lung, Hyperlucent</term><term>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" qualifier="history" xml:lang="en"><term>Chorea</term><term>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term><term>Lung, Hyperlucent</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Chorea</term><term>Lung, Hyperlucent</term><term>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Chorea</term><term>Lung, Hyperlucent</term><term>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Disease Models, Animal</term><term>History, 20th Century</term><term>History, 21st Century</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Acanthocytose</term><term>Caractère lié au sexe</term><term>Chorée syndrome</term><term>Syndrome de MacLeod</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of “neuroacanthocytosis” has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorders is the presence of thorny deformations of circulating erythrocytes. This may be due to abnormal properties of red cell membranes, which could lead to insights into mech‐ anisms of neurodegeneration. Research approaches in this field, in addition to examining functions and protein interactions of the affected proteins with particular respect to neurons, have also drawn upon the expertise of hematologists and red cell membrane biologists. In this article, recent developments in the field are presented. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>Italie</li><li>Suisse</li><li>États-Unis</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li><li>Lombardie</li><li>Québec</li><li>État de New York</li></region><settlement><li>Bordeaux</li><li>Milan</li><li>Montréal</li><li>Munich</li><li>Sydney</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></region></country><country name="Allemagne"><region name="Bavière"><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></region></country><country name="Australie"><noRegion><name sortKey="Dobson Tone, Carol" sort="Dobson Tone, Carol" uniqKey="Dobson Tone C" first="Carol" last="Dobson-Stone">Carol Dobson-Stone</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name></noRegion><name sortKey="Rampoldi, Luca" sort="Rampoldi, Luca" uniqKey="Rampoldi L" first="Luca" last="Rampoldi">Luca Rampoldi</name></country><country name="Suisse"><noRegion><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name></noRegion></country><country name="Canada"><region name="Québec"><name sortKey="Lafontaine, Anne Ouise" sort="Lafontaine, Anne Ouise" uniqKey="Lafontaine A" first="Anne-Louise" last="Lafontaine">Anne-Louise Lafontaine</name></region><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name></country><country name="France"><noRegion><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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