Movement Disorders (revue)

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Parkin disease in a brazilian kindred : Manifesting heterozygotes and clinical follow-up over 10 years

Identifieur interne : 001D63 ( PascalFrancis/Checkpoint ); précédent : 001D62; suivant : 001D64

Parkin 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 Lees (neurologue) [Royaume-Uni]

Source :

RBID : Pascal:05-0262070

Descripteurs français

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 extra-pyramidal 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.


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Pascal:05-0262070

Le document en format XML

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<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 extra-pyramidal 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.</div>
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<s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="04">
<s1>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA20>
<s1>479-484</s1>
</fA20>
<fA21>
<s1>2005</s1>
</fA21>
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<s0>ENG</s0>
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<s2>20953</s2>
<s5>354000124582390130</s5>
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<s1>© 2005 INIST-CNRS. All rights reserved.</s1>
</fA44>
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<s0>18 ref.</s0>
</fA45>
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<s0>05-0262070</s0>
</fA47>
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<s1>P</s1>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>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 extra-pyramidal 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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X">
<s0>002B17A03</s0>
</fC02>
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<s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Parkine</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Parkin</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Parkin</s0>
<s5>02</s5>
</fC03>
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<s5>03</s5>
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<s0>Carrier</s0>
<s5>03</s5>
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<s0>Portador</s0>
<s5>03</s5>
</fC03>
<fN21>
<s1>185</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations>
<list>
<country>
<li>Brésil</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region>
<li>Angleterre</li>
<li>Grand Londres</li>
<li>Maryland</li>
</region>
<settlement>
<li>Londres</li>
</settlement>
<orgName>
<li>National Hospital for Neurology and Neurosurgery</li>
</orgName>
</list>
<tree>
<country name="Royaume-Uni">
<region name="Angleterre">
<name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L." last="Khan">Naheed L. Khan</name>
</region>
<name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name>
<name sortKey="Eunson, Louise" sort="Eunson, Louise" uniqKey="Eunson L" first="Louise" last="Eunson">Louise Eunson</name>
<name sortKey="Graham, Elizabeth" sort="Graham, Elizabeth" uniqKey="Graham E" first="Elizabeth" last="Graham">Elizabeth Graham</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
</country>
<country name="Brésil">
<noRegion>
<name sortKey="Horta, Wagner" sort="Horta, Wagner" uniqKey="Horta W" first="Wagner" last="Horta">Wagner Horta</name>
</noRegion>
</country>
<country name="États-Unis">
<region name="Maryland">
<name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O." last="Johnson">Janel O. Johnson</name>
</region>
<name sortKey="Shannon Chang" sort="Shannon Chang" uniqKey="Shannon Chang" last="Shannon Chang">SHANNON CHANG</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</country>
</tree>
</affiliations>
</record>

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