Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
Identifieur interne : 000152 ( Main/Exploration ); précédent : 000151; suivant : 000153Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
Auteurs : Elizabeth E. O'Hearn [États-Unis] ; Hyon S. Hwang [États-Unis] ; Susan E. Holmes [États-Unis] ; Dobrila D. Rudnicki [États-Unis] ; Daniel W. Chung [États-Unis] ; Ana I. Seixas [États-Unis] ; Rachael L. Cohen [États-Unis] ; Christopher A. Ross [États-Unis] ; John Q. Trojanowski [États-Unis] ; Olga Pletnikova [États-Unis] ; Juan C. Troncoso [États-Unis] ; Russell L. Margolis [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has demonstrated cerebellar and cortical atrophy. We now present the neuropathology of the first autopsied SCA12 brain and utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration.
DOI: 10.1002/mds.26348
PubMed: 26340331
Affiliations:
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Rudnicki</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Chung, Daniel W" sort="Chung, Daniel W" uniqKey="Chung D" first="Daniel W" last="Chung">Daniel W. Chung</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Seixas, Ana I" sort="Seixas, Ana I" uniqKey="Seixas A" first="Ana I" last="Seixas">Ana I. Seixas</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Cohen, Rachael L" sort="Cohen, Rachael L" uniqKey="Cohen R" first="Rachael L" last="Cohen">Rachael L. Cohen</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Ross, Christopher A" sort="Ross, Christopher A" uniqKey="Ross C" first="Christopher A" last="Ross">Christopher A. Ross</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name><affiliation wicri:level="2"><nlm:affiliation>Institute on Aging, Alzheimer's Disease Core Center, Udall Parkinson's Research Center, Center for Neurodegenerative Disease, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute on Aging, Alzheimer's Disease Core Center, Udall Parkinson's Research Center, Center for Neurodegenerative Disease, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Pletnikova, Olga" sort="Pletnikova, Olga" uniqKey="Pletnikova O" first="Olga" last="Pletnikova">Olga Pletnikova</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Troncoso, Juan C" sort="Troncoso, Juan C" uniqKey="Troncoso J" first="Juan C" last="Troncoso">Juan C. Troncoso</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L" last="Margolis">Russell L. Margolis</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has demonstrated cerebellar and cortical atrophy. We now present the neuropathology of the first autopsied SCA12 brain and utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li><li>Pennsylvanie</li></region></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="O Hearn, Elizabeth E" sort="O Hearn, Elizabeth E" uniqKey="O Hearn E" first="Elizabeth E" last="O'Hearn">Elizabeth E. O'Hearn</name></region><name sortKey="Chung, Daniel W" sort="Chung, Daniel W" uniqKey="Chung D" first="Daniel W" last="Chung">Daniel W. Chung</name><name sortKey="Cohen, Rachael L" sort="Cohen, Rachael L" uniqKey="Cohen R" first="Rachael L" last="Cohen">Rachael L. Cohen</name><name sortKey="Holmes, Susan E" sort="Holmes, Susan E" uniqKey="Holmes S" first="Susan E" last="Holmes">Susan E. Holmes</name><name sortKey="Hwang, Hyon S" sort="Hwang, Hyon S" uniqKey="Hwang H" first="Hyon S" last="Hwang">Hyon S. Hwang</name><name sortKey="Margolis, Russell L" sort="Margolis, Russell L" uniqKey="Margolis R" first="Russell L" last="Margolis">Russell L. Margolis</name><name sortKey="Pletnikova, Olga" sort="Pletnikova, Olga" uniqKey="Pletnikova O" first="Olga" last="Pletnikova">Olga Pletnikova</name><name sortKey="Ross, Christopher A" sort="Ross, Christopher A" uniqKey="Ross C" first="Christopher A" last="Ross">Christopher A. Ross</name><name sortKey="Rudnicki, Dobrila D" sort="Rudnicki, Dobrila D" uniqKey="Rudnicki D" first="Dobrila D" last="Rudnicki">Dobrila D. Rudnicki</name><name sortKey="Seixas, Ana I" sort="Seixas, Ana I" uniqKey="Seixas A" first="Ana I" last="Seixas">Ana I. Seixas</name><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name><name sortKey="Troncoso, Juan C" sort="Troncoso, Juan C" uniqKey="Troncoso J" first="Juan C" last="Troncoso">Juan C. Troncoso</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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