Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2)
Identifieur interne : 003B82 ( Main/Exploration ); précédent : 003B81; suivant : 003B83Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2)
Auteurs : Sarah Furtado [Canada] ; Haydeh Payami [États-Unis] ; Paul J. Lockhart [États-Unis] ; Melissa Hanson [États-Unis] ; John G. Nutt [États-Unis] ; Andrew A. Singleton [États-Unis] ; Amanda Singleton [États-Unis] ; Jamel Bower [États-Unis] ; Ryan J. Utti [États-Unis] ; Thomas D. Bird [États-Unis] ; Raul De La Fuente-Fernandez [Canada] ; Yoshio Tsuboi [États-Unis] ; Mary L. Klimek [Canada] ; Oksana Suchowersky [Canada] ; John Hardy [États-Unis] ; Donald B. Calne [Canada] ; Zbigniew K. Wszolek [États-Unis] ; Matthew Farrer [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; A. Jon Stoessl [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-06.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Antiparkinson Agents (therapeutic use), Brain (blood supply), Brain (metabolism), Brain (pathology), Corpus Striatum (blood supply), Corpus Striatum (metabolism), Dopamine Plasma Membrane Transport Proteins, Dystonia (epidemiology), Humans, Levodopa (therapeutic use), Magnetic Resonance Imaging, Membrane Glycoproteins (metabolism), Membrane Transport Proteins (metabolism), Nerve Tissue Proteins (metabolism), Nervous system diseases, PET, Parkinson's disease, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Parkinsonism, Posture, SCA2, Spinocerebellar Ataxias (drug therapy), Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Tomography, Emission-Computed, Tomography, Emission-Computed, Single-Photon, Tremor (drug therapy), Tremor (epidemiology), genetic mutation, interrupted repeats, parkinsonism, phenotype.
- MESH :
- chemical , metabolism : Membrane Glycoproteins, Membrane Transport Proteins, Nerve Tissue Proteins.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- blood supply : Brain, Corpus Striatum.
- drug therapy : Parkinsonian Disorders, Spinocerebellar Ataxias, Tremor.
- epidemiology : Dystonia, Parkinsonian Disorders, Spinocerebellar Ataxias, Tremor.
- genetics : Parkinsonian Disorders, Spinocerebellar Ataxias.
- metabolism : Brain, Corpus Striatum.
- pathology : Brain.
- chemical : Dopamine Plasma Membrane Transport Proteins, Humans, Magnetic Resonance Imaging, Posture, Tomography, Emission-Computed, Tomography, Emission-Computed, Single-Photon.
Abstract
Spinocerebellar ataxia type 2 (SCA2) has been recognized recently as an uncommon cause of parkinsonism, an alternate presentation to the typical cerebellar disorder. This research review summarizes the existing literature on parkinsonism‐predominant presentation SCA2 and presents new clinical cases of patients with this condition. Various phenotypes are noted in this subtype of SCA2, including parkinsonism indistinguishable from idiopathic Parkinson's disease (PD), parkinsonism plus ataxia, motor neuron disease, and postural tremor. In several kindreds with multiple affected family members, the SCA2 expansion segregated with disease; in addition, several single cases of parkinsonism with and without a family history are also described. The number of repeats in symptomatic patients ranged from 33 to 43. Interruption of the CAG repeat with CAA, CGG, or CCG was found in some individuals, possibly stabilizing the repeat structure and accounting for the relative stability of the repeat size across generations in some families; allele length is not necessarily indicative of trinucleotide repeat architecture. Positron emission tomography scanning in one family showed reduced fluorodopa uptake and normal to increased raclopride binding with a rostrocaudal gradient similar to that found in idiopathic PD. This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20074
Affiliations:
- Canada, États-Unis
- Alberta, Floride, Maryland, Minnesota, Oregon, Washington (État), État de New York
- Calgary
- Université de Calgary
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Le document en format XML
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Lockhart</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neuroscience and Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Oregon Health Sciences University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew A" sort="Singleton, Andrew A" uniqKey="Singleton A" first="Andrew A." last="Singleton">Andrew A. Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Singleton, Amanda" sort="Singleton, Amanda" uniqKey="Singleton A" first="Amanda" last="Singleton">Amanda Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Bower, Jamel" sort="Bower, Jamel" uniqKey="Bower J" first="Jamel" last="Bower">Jamel Bower</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic Rochester, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Utti, Ryan J" sort="Utti, Ryan J" uniqKey="Utti R" first="Ryan J." last="Utti">Ryan J. Utti</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neuroscience and Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Washington and Veteran Affairs Puget Sound Health Care System, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="De La Fuente Ernandez, Raul" sort="De La Fuente Ernandez, Raul" uniqKey="De La Fuente Ernandez R" first="Raul" last="De La Fuente-Fernandez">Raul De La Fuente-Fernandez</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Tsuboi, Yoshio" sort="Tsuboi, Yoshio" uniqKey="Tsuboi Y" first="Yoshio" last="Tsuboi">Yoshio Tsuboi</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neuroscience and Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Klimek, Mary L" sort="Klimek, Mary L" uniqKey="Klimek M" first="Mary L." last="Klimek">Mary L. Klimek</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation></author><author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neuroscience and Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neuroscience and Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A. Jon" last="Stoessl">A. Jon Stoessl</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2004-06">2004-06</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="622">622</biblScope><biblScope unit="page" to="629">629</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DF3F0F7E6EF3C328C175F7E5A042E584928F9B4A</idno><idno type="DOI">10.1002/mds.20074</idno><idno type="ArticleID">MDS20074</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term><term>Brain (blood supply)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Corpus Striatum (blood supply)</term><term>Corpus Striatum (metabolism)</term><term>Dopamine Plasma Membrane Transport Proteins</term><term>Dystonia (epidemiology)</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Magnetic Resonance Imaging</term><term>Membrane Glycoproteins (metabolism)</term><term>Membrane Transport Proteins (metabolism)</term><term>Nerve Tissue Proteins (metabolism)</term><term>Nervous system diseases</term><term>PET</term><term>Parkinson's disease</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Posture</term><term>SCA2</term><term>Spinocerebellar Ataxias (drug therapy)</term><term>Spinocerebellar Ataxias (epidemiology)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Tomography, Emission-Computed</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tremor (drug therapy)</term><term>Tremor (epidemiology)</term><term>genetic mutation</term><term>interrupted repeats</term><term>parkinsonism</term><term>phenotype</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Membrane Glycoproteins</term><term>Membrane Transport Proteins</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Brain</term><term>Corpus Striatum</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Corpus Striatum</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Dopamine Plasma Membrane Transport Proteins</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Posture</term><term>Tomography, Emission-Computed</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 2 (SCA2) has been recognized recently as an uncommon cause of parkinsonism, an alternate presentation to the typical cerebellar disorder. This research review summarizes the existing literature on parkinsonism‐predominant presentation SCA2 and presents new clinical cases of patients with this condition. Various phenotypes are noted in this subtype of SCA2, including parkinsonism indistinguishable from idiopathic Parkinson's disease (PD), parkinsonism plus ataxia, motor neuron disease, and postural tremor. In several kindreds with multiple affected family members, the SCA2 expansion segregated with disease; in addition, several single cases of parkinsonism with and without a family history are also described. The number of repeats in symptomatic patients ranged from 33 to 43. Interruption of the CAG repeat with CAA, CGG, or CCG was found in some individuals, possibly stabilizing the repeat structure and accounting for the relative stability of the repeat size across generations in some families; allele length is not necessarily indicative of trinucleotide repeat architecture. Positron emission tomography scanning in one family showed reduced fluorodopa uptake and normal to increased raclopride binding with a rostrocaudal gradient similar to that found in idiopathic PD. This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Alberta</li><li>Floride</li><li>Maryland</li><li>Minnesota</li><li>Oregon</li><li>Washington (État)</li><li>État de New York</li></region><settlement><li>Calgary</li></settlement><orgName><li>Université de Calgary</li></orgName></list><tree><country name="Canada"><region name="Alberta"><name sortKey="Furtado, Sarah" sort="Furtado, Sarah" uniqKey="Furtado S" first="Sarah" last="Furtado">Sarah Furtado</name></region><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name><name sortKey="De La Fuente Ernandez, Raul" sort="De La Fuente Ernandez, Raul" uniqKey="De La Fuente Ernandez R" first="Raul" last="De La Fuente-Fernandez">Raul De La Fuente-Fernandez</name><name sortKey="Klimek, Mary L" sort="Klimek, Mary L" uniqKey="Klimek M" first="Mary L." last="Klimek">Mary L. Klimek</name><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A. Jon" last="Stoessl">A. Jon Stoessl</name><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name></country><country name="États-Unis"><region name="Oregon"><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name></region><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name><name sortKey="Bower, Jamel" sort="Bower, Jamel" uniqKey="Bower J" first="Jamel" last="Bower">Jamel Bower</name><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><name sortKey="Singleton, Amanda" sort="Singleton, Amanda" uniqKey="Singleton A" first="Amanda" last="Singleton">Amanda Singleton</name><name sortKey="Singleton, Andrew A" sort="Singleton, Andrew A" uniqKey="Singleton A" first="Andrew A." last="Singleton">Andrew A. Singleton</name><name sortKey="Tsuboi, Yoshio" sort="Tsuboi, Yoshio" uniqKey="Tsuboi Y" first="Yoshio" last="Tsuboi">Yoshio Tsuboi</name><name sortKey="Utti, Ryan J" sort="Utti, Ryan J" uniqKey="Utti R" first="Ryan J." last="Utti">Ryan J. Utti</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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