Movement Disorders (revue)

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Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)

Identifieur interne : 001D59 ( PascalFrancis/Checkpoint ); précédent : 001D58; suivant : 001D60

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)

Auteurs : Naheed L. Khan [Royaume-Uni] ; Paola Giunti [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Christoph Scherfler [Royaume-Uni] ; Michael O. Brien [Royaume-Uni] ; Paola Piccini [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni]

Source :

RBID : Pascal:05-0492584

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English descriptors

Abstract

SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of 18F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy.


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Pascal:05-0492584

Le document en format XML

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<div type="abstract" xml:lang="en">SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of
<sup>18</sup>
F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy.</div>
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</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>SCA6 is a slowly progressive, late-onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L-dopa-responsive with a pattern of
<sup>18</sup>
F-dopa uptake similar to Parkinson's disease, and the second case was not L-dopa-responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy.</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>002B05C02A</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<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>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Trouble fonctionnel</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Dysfunction</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Trastorno funcional</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Ataxie spinocérébelleuse</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Spinocerebellar ataxia</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Ataxia spinocerebelosa</s0>
<s2>NM</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Ataxie cérébelleuse</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Cerebellar ataxia</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Ataxia cerebelosa</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Dopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Dopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Dopa</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE">
<s0>Tomoscintigraphie</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG">
<s0>Emission tomography</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA">
<s0>Tomocentelleografía</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE">
<s0>Positon</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG">
<s0>Positron</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA">
<s0>Positrón</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE">
<s0>Tomographie émission positon</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG">
<s0>Positron emission tomography</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA">
<s0>Tomografía emisión positrones</s0>
<s5>15</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fN21>
<s1>346</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations>
<list>
<country>
<li>Royaume-Uni</li>
</country>
<region>
<li>Angleterre</li>
<li>Grand Londres</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="Brien, Michael O" sort="Brien, Michael O" uniqKey="Brien M" first="Michael O." last="Brien">Michael O. Brien</name>
<name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L." last="Khan">Naheed L. Khan</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="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name>
<name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name>
<name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name>
<name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
</country>
</tree>
</affiliations>
</record>

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