Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Identifieur interne : 002138 ( PascalFrancis/Corpus ); précédent : 002137; suivant : 002139Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Auteurs : Sarah Furtado ; Haydeh Payami ; Paul J. Lockhart ; Melissa Hanson ; John G. Nutt ; Andrew A. Singleton ; Amanda Singleton ; Jamel Bower ; Ryan J. Utti ; Thomas D. Bird ; Raul De La Fuente-Fernandez ; Yoshio Tsuboi ; Mary L. Klimek ; Oksana Suchowersky ; John Hardy ; Donald B. Calne ; Zbigniew K. Wszolek ; Matthew Farrer ; Katrina Gwinn-Hardy ; A. Jon StoesslSource :
- Movement disorders [ 0885-3185 ] ; 2004.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
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Format Inist (serveur)
| NO : | PASCAL 04-0415338 INIST |
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| ET : | Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2) |
| AU : | FURTADO (Sarah); PAYAMI (Haydeh); LOCKHART (Paul J.); HANSON (Melissa); NUTT (John G.); SINGLETON (Andrew A.); SINGLETON (Amanda); BOWER (Jamel); UTTI (Ryan J.); BIRD (Thomas D.); DE LA FUENTE-FERNANDEZ (Raul); TSUBOI (Yoshio); KLIMEK (Mary L.); SUCHOWERSKY (Oksana); HARDY (John); CALNE (Donald B.); WSZOLEK (Zbigniew K.); FARRER (Matthew); GWINN-HARDY (Katrina); STOESSL (A. Jon) |
| AF : | Department of Clinical Neurosciences, University of Calgary/Calgary, Alberta/Canada (1 aut., 13 aut., 14 aut.); Department of Neurology, Oregon Health Sciences University/Portland, Oregon/Etats-Unis (2 aut., 5 aut.); Wadsworth Centre, New York State Department of Health/Albany, New York/Etats-Unis (2 aut.); Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville/Jacksonville, Florida/Etats-Unis (3 aut., 9 aut., 12 aut., 17 aut., 18 aut.); Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health/Bethesda, Maryland/Etats-Unis (4 aut., 6 aut., 15 aut.); Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health/Bethesda, Maryland/Etats-Unis (7 aut., 19 aut.); Department of Neurology, Mayo Clinic Rochester/Rochester, Minnesota/Etats-Unis (8 aut.); Department of Neurology, University of Washington and Veteran Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (10 aut.); Pacific Parkinson's Research Centre, University of British Columbia/Vancouver, BC/Canada (11 aut., 16 aut., 20 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 6; Pp. 622-629; Bibl. 28 ref. |
| LA : | Anglais |
| EA : | 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. |
| CC : | 002B17 |
| FD : | Parkinsonisme; Ataxie spinocérébelleuse; Système nerveux pathologie |
| ED : | Parkinsonism; Spinocerebellar ataxia; Nervous system diseases |
| SD : | Parkinson síndrome; Ataxia spinocerebelosa; Sistema nervioso patología |
| LO : | INIST-20953.354000113781310020 |
| ID : | 04-0415338 |
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Pascal:04-0415338Le document en format XML
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Klimek</name><affiliation><inist:fA14 i1="01"><s1>Department of Clinical Neurosciences, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name><affiliation><inist:fA14 i1="01"><s1>Department of Clinical Neurosciences, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><inist:fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></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><inist:fA14 i1="09"><s1>Pacific Parkinson's Research Centre, University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>11 aut.</sZ><sZ>16 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></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><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation><inist:fA14 i1="06"><s1>Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14></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><inist:fA14 i1="09"><s1>Pacific Parkinson's Research Centre, University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>11 aut.</sZ><sZ>16 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">04-0415338</idno><date when="2004">2004</date><idno type="stanalyst">PASCAL 04-0415338 INIST</idno><idno type="RBID">Pascal:04-0415338</idno><idno type="wicri:Area/PascalFrancis/Corpus">002138</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)</title><author><name sortKey="Furtado, Sarah" sort="Furtado, Sarah" uniqKey="Furtado S" first="Sarah" last="Furtado">Sarah Furtado</name><affiliation><inist:fA14 i1="01"><s1>Department of Clinical Neurosciences, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Oregon Health Sciences University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="03"><s1>Wadsworth Centre, New York State Department of Health</s1><s2>Albany, New York</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name><affiliation><inist:fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></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><inist:fA14 i1="02"><s1>Department of Neurology, Oregon Health Sciences University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14></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><inist:fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Singleton, Amanda" sort="Singleton, Amanda" uniqKey="Singleton A" first="Amanda" last="Singleton">Amanda Singleton</name><affiliation><inist:fA14 i1="06"><s1>Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bower, Jamel" sort="Bower, Jamel" uniqKey="Bower J" first="Jamel" last="Bower">Jamel Bower</name><affiliation><inist:fA14 i1="07"><s1>Department of Neurology, Mayo Clinic Rochester</s1><s2>Rochester, Minnesota</s2><s3>USA</s3><sZ>8 aut.</sZ></inist:fA14></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><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></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><inist:fA14 i1="08"><s1>Department of Neurology, University of Washington and Veteran Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="De La Fuente Fernandez, Raul" sort="De La Fuente Fernandez, Raul" uniqKey="De La Fuente Fernandez R" first="Raul" last="De La Fuente-Fernandez">Raul De La Fuente-Fernandez</name><affiliation><inist:fA14 i1="09"><s1>Pacific Parkinson's Research Centre, University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>11 aut.</sZ><sZ>16 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Tsuboi, Yoshio" sort="Tsuboi, Yoshio" uniqKey="Tsuboi Y" first="Yoshio" last="Tsuboi">Yoshio Tsuboi</name><affiliation><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></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><inist:fA14 i1="01"><s1>Department of Clinical Neurosciences, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name><affiliation><inist:fA14 i1="01"><s1>Department of Clinical Neurosciences, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><inist:fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>15 aut.</sZ></inist:fA14></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><inist:fA14 i1="09"><s1>Pacific Parkinson's Research Centre, University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>11 aut.</sZ><sZ>16 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></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><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation><inist:fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation><inist:fA14 i1="06"><s1>Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14></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><inist:fA14 i1="09"><s1>Pacific Parkinson's Research Centre, University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>11 aut.</sZ><sZ>16 aut.</sZ><sZ>20 aut.</sZ></inist:fA14></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term><term>Parkinsonism</term><term>Spinocerebellar ataxia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Ataxie spinocérébelleuse</term><term>Système nerveux pathologie</term></keywords></textClass></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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>19</s2></fA05><fA06><s2>6</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)</s1></fA08><fA11 i1="01" i2="1"><s1>FURTADO (Sarah)</s1></fA11><fA11 i1="02" i2="1"><s1>PAYAMI (Haydeh)</s1></fA11><fA11 i1="03" i2="1"><s1>LOCKHART (Paul J.)</s1></fA11><fA11 i1="04" i2="1"><s1>HANSON (Melissa)</s1></fA11><fA11 i1="05" i2="1"><s1>NUTT (John G.)</s1></fA11><fA11 i1="06" i2="1"><s1>SINGLETON (Andrew A.)</s1></fA11><fA11 i1="07" i2="1"><s1>SINGLETON (Amanda)</s1></fA11><fA11 i1="08" i2="1"><s1>BOWER (Jamel)</s1></fA11><fA11 i1="09" i2="1"><s1>UTTI (Ryan J.)</s1></fA11><fA11 i1="10" i2="1"><s1>BIRD (Thomas D.)</s1></fA11><fA11 i1="11" i2="1"><s1>DE LA FUENTE-FERNANDEZ (Raul)</s1></fA11><fA11 i1="12" i2="1"><s1>TSUBOI (Yoshio)</s1></fA11><fA11 i1="13" i2="1"><s1>KLIMEK (Mary L.)</s1></fA11><fA11 i1="14" i2="1"><s1>SUCHOWERSKY (Oksana)</s1></fA11><fA11 i1="15" i2="1"><s1>HARDY (John)</s1></fA11><fA11 i1="16" i2="1"><s1>CALNE (Donald B.)</s1></fA11><fA11 i1="17" i2="1"><s1>WSZOLEK (Zbigniew K.)</s1></fA11><fA11 i1="18" i2="1"><s1>FARRER (Matthew)</s1></fA11><fA11 i1="19" i2="1"><s1>GWINN-HARDY (Katrina)</s1></fA11><fA11 i1="20" i2="1"><s1>STOESSL (A. Jon)</s1></fA11><fA14 i1="01"><s1>Department of Clinical Neurosciences, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, Oregon Health Sciences University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></fA14><fA14 i1="03"><s1>Wadsworth Centre, New York State Department of Health</s1><s2>Albany, New York</s2><s3>USA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="04"><s1>Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="05"><s1>Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="06"><s1>Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, Mayo Clinic Rochester</s1><s2>Rochester, Minnesota</s2><s3>USA</s3><sZ>8 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Neurology, University of Washington and Veteran Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>10 aut.</sZ></fA14><fA14 i1="09"><s1>Pacific Parkinson's Research Centre, University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>11 aut.</sZ><sZ>16 aut.</sZ><sZ>20 aut.</sZ></fA14><fA20><s1>622-629</s1></fA20><fA21><s1>2004</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000113781310020</s5></fA43><fA44><s0>0000</s0><s1>© 2004 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>28 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>04-0415338</s0></fA47><fA60><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>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Ataxie spinocérébelleuse</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Spinocerebellar ataxia</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>04</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>04</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>04</s5></fC03><fN21><s1>236</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 04-0415338 INIST</NO><ET>Profile of families with Parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)</ET><AU>FURTADO (Sarah); PAYAMI (Haydeh); LOCKHART (Paul J.); HANSON (Melissa); NUTT (John G.); SINGLETON (Andrew A.); SINGLETON (Amanda); BOWER (Jamel); UTTI (Ryan J.); BIRD (Thomas D.); DE LA FUENTE-FERNANDEZ (Raul); TSUBOI (Yoshio); KLIMEK (Mary L.); SUCHOWERSKY (Oksana); HARDY (John); CALNE (Donald B.); WSZOLEK (Zbigniew K.); FARRER (Matthew); GWINN-HARDY (Katrina); STOESSL (A. Jon)</AU><AF>Department of Clinical Neurosciences, University of Calgary/Calgary, Alberta/Canada (1 aut., 13 aut., 14 aut.); Department of Neurology, Oregon Health Sciences University/Portland, Oregon/Etats-Unis (2 aut., 5 aut.); Wadsworth Centre, New York State Department of Health/Albany, New York/Etats-Unis (2 aut.); Departments of Neitroscience and Neurology, Mayo Clinic Jacksonville/Jacksonville, Florida/Etats-Unis (3 aut., 9 aut., 12 aut., 17 aut., 18 aut.); Laboratory of Neurogenetics, National Institute on Aging (NIA), National Institutes of Health/Bethesda, Maryland/Etats-Unis (4 aut., 6 aut., 15 aut.); Neurogenetics Division, Parkinson's Genetics Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health/Bethesda, Maryland/Etats-Unis (7 aut., 19 aut.); Department of Neurology, Mayo Clinic Rochester/Rochester, Minnesota/Etats-Unis (8 aut.); Department of Neurology, University of Washington and Veteran Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (10 aut.); Pacific Parkinson's Research Centre, University of British Columbia/Vancouver, BC/Canada (11 aut., 16 aut., 20 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2004; Vol. 19; No. 6; Pp. 622-629; Bibl. 28 ref.</SO><LA>Anglais</LA><EA>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.</EA><CC>002B17</CC><FD>Parkinsonisme; Ataxie spinocérébelleuse; Système nerveux pathologie</FD><ED>Parkinsonism; Spinocerebellar ataxia; Nervous system diseases</ED><SD>Parkinson síndrome; Ataxia spinocerebelosa; Sistema nervioso patología</SD><LO>INIST-20953.354000113781310020</LO><ID>04-0415338</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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