Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years
Identifieur interne : 001E52 ( Istex/Curation ); précédent : 001E51; suivant : 001E53Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years
Auteurs : Naheed L. Khan [Royaume-Uni] ; Wagner Horta [Brésil] ; Louise Eunson [Royaume-Uni] ; Elizabeth Graham [Royaume-Uni] ; Janel O. Johnson [États-Unis] ; Shannon Chang [États-Unis] ; Mary Davis [Royaume-Uni] ; Andrew Singleton [États-Unis] ; Nicholas W. Wood [Royaume-Uni] ; Andrew J. Lees [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-04.
English descriptors
Abstract
We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20335
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001E52
Links to Exploration step
ISTEX:078159AAB03402D287C00EDCC3BCA2514985A4FDLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years</title><author><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L." last="Khan">Naheed L. Khan</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Horta, Wagner" sort="Horta, Wagner" uniqKey="Horta W" first="Wagner" last="Horta">Wagner Horta</name><affiliation wicri:level="1"><mods:affiliation>Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara</wicri:regionArea></affiliation></author><author><name sortKey="Eunson, Louise" sort="Eunson, Louise" uniqKey="Eunson L" first="Louise" last="Eunson">Louise Eunson</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Graham, Elizabeth" sort="Graham, Elizabeth" uniqKey="Graham E" first="Elizabeth" last="Graham">Elizabeth Graham</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O." last="Johnson">Janel O. Johnson</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Chang, Shannon" sort="Chang, Shannon" uniqKey="Chang S" first="Shannon" last="Chang">Shannon Chang</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:078159AAB03402D287C00EDCC3BCA2514985A4FD</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20335</idno><idno type="url">https://api.istex.fr/document/078159AAB03402D287C00EDCC3BCA2514985A4FD/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001E52</idno><idno type="wicri:Area/Istex/Curation">001E52</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years</title><author><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L." last="Khan">Naheed L. Khan</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Horta, Wagner" sort="Horta, Wagner" uniqKey="Horta W" first="Wagner" last="Horta">Wagner Horta</name><affiliation wicri:level="1"><mods:affiliation>Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara</wicri:regionArea></affiliation></author><author><name sortKey="Eunson, Louise" sort="Eunson, Louise" uniqKey="Eunson L" first="Louise" last="Eunson">Louise Eunson</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Graham, Elizabeth" sort="Graham, Elizabeth" uniqKey="Graham E" first="Elizabeth" last="Graham">Elizabeth Graham</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O." last="Johnson">Janel O. Johnson</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Chang, Shannon" sort="Chang, Shannon" uniqKey="Chang S" first="Shannon" last="Chang">Shannon Chang</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London</wicri:regionArea></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="2005-04">2005-04</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="479">479</biblScope><biblScope unit="page" to="484">484</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">078159AAB03402D287C00EDCC3BCA2514985A4FD</idno><idno type="DOI">10.1002/mds.20335</idno><idno type="ArticleID">MDS20335</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>haploinsufficiency</term><term>isolated population</term><term>manifesting carriers</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001E52 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 001E52 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:078159AAB03402D287C00EDCC3BCA2514985A4FD
|texte= Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years
}}
| This area was generated with Dilib version V0.6.23. |  |