Disruption of visual and motor connectivity in spinocerebellar ataxia type 7.
Identifieur interne : 000A23 ( Main/Merge ); précédent : 000A22; suivant : 000A24Disruption of visual and motor connectivity in spinocerebellar ataxia type 7.
Auteurs : Carlos R. Hernandez-Castillo [États-Unis] ; Sarael Alcauter ; Victor Galvez ; Fernando A. Barrios ; Petra Yescas ; Adriana Ochoa ; Lizbeth Garcia ; Rosalinda Diaz ; Wei Gao ; Juan Fernandez-RuizSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adult, Atrophy (physiopathology), Cerebellum (physiopathology), Efferent Pathways (physiopathology), Female, Frontal Lobe (physiopathology), Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Nerve Net (physiopathology), Neurons (physiology), Spinocerebellar Ataxias (physiopathology), Visual Pathways (physiopathology).
- MESH :
- physiology : Neurons.
- physiopathology : Atrophy, Cerebellum, Efferent Pathways, Frontal Lobe, Nerve Net, Spinocerebellar Ataxias, Visual Pathways.
- Adult, Female, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged.
Abstract
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder characterized by progressive ataxia and retinal dystrophy. It is caused by a CAG trinucleotide expansion in the ataxin7 gene. Anatomical studies have shown severe cerebellar degeneration and region-specific neocortical atrophy in SCA7 patients. However, the impact of the neurodegeneration on the functional integration of the remaining tissue is still unknown. The aim of this study was to examine functional connectivity abnormalities in areas with significant gray matter atrophy in SCA7 patients and their relationship with number of CAG repeats. Using a combination of voxel-based morphometry and resting-state fMRI, we studied 26 genetically confirmed SCA7 patients and aged-matched healthy controls. In SCA7 patients we found reduced functional interaction between the cerebellum and the middle and superior frontal gyri, disrupted functional connectivity between the visual and motor cortices, and increased functional coordination between atrophied areas of the cerebellum and a range of visual cortical areas compared with healthy controls. The degree of mutation expansion showed a negative effect on both the functional interaction between the right anterior cerebellum and the left superior frontal gyrus and the connectivity between the right anterior cerebellum and left parahippocampal gyrus. We found abnormal functional connectivity patterns, including both hypo- and hyperconnectivity, compared with controls. These abnormal patterns show reasonable association with the severity of gene mutation. Our findings suggest that aberrant changes are prevalent in both motor and visual systems, adding significantly to our understanding of the pathophysiology of SCA7.
DOI: 10.1002/mds.25618
PubMed: 23926060
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Hernandez-Castillo</name><affiliation wicri:level="2"><nlm:affiliation>Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, Mexico; Department of Radiology and BRIC, University of North Carolina, Chapel Hill, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, Mexico; Department of Radiology and BRIC, University of North Carolina, Chapel Hill, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Alcauter, Sarael" sort="Alcauter, Sarael" uniqKey="Alcauter S" first="Sarael" last="Alcauter">Sarael Alcauter</name></author><author><name sortKey="Galvez, Victor" sort="Galvez, Victor" uniqKey="Galvez V" first="Victor" last="Galvez">Victor Galvez</name></author><author><name sortKey="Barrios, Fernando A" sort="Barrios, Fernando A" uniqKey="Barrios F" first="Fernando A" last="Barrios">Fernando A. Barrios</name></author><author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name></author><author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name></author><author><name sortKey="Garcia, Lizbeth" sort="Garcia, Lizbeth" uniqKey="Garcia L" first="Lizbeth" last="Garcia">Lizbeth Garcia</name></author><author><name sortKey="Diaz, Rosalinda" sort="Diaz, Rosalinda" uniqKey="Diaz R" first="Rosalinda" last="Diaz">Rosalinda Diaz</name></author><author><name sortKey="Gao, Wei" sort="Gao, Wei" uniqKey="Gao W" first="Wei" last="Gao">Wei Gao</name></author><author><name sortKey="Fernandez Ruiz, Juan" sort="Fernandez Ruiz, Juan" uniqKey="Fernandez Ruiz J" first="Juan" last="Fernandez-Ruiz">Juan Fernandez-Ruiz</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23926060</idno><idno type="pmid">23926060</idno><idno type="doi">10.1002/mds.25618</idno><idno type="wicri:Area/PubMed/Corpus">000786</idno><idno type="wicri:Area/PubMed/Curation">000786</idno><idno type="wicri:Area/PubMed/Checkpoint">000A32</idno><idno type="wicri:Area/Ncbi/Merge">003D10</idno><idno type="wicri:Area/Ncbi/Curation">003D10</idno><idno type="wicri:Area/Ncbi/Checkpoint">003D10</idno><idno type="wicri:Area/Main/Merge">000A23</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Disruption of visual and motor connectivity in spinocerebellar ataxia type 7.</title><author><name sortKey="Hernandez Castillo, Carlos R" sort="Hernandez Castillo, Carlos R" uniqKey="Hernandez Castillo C" first="Carlos R" last="Hernandez-Castillo">Carlos R. Hernandez-Castillo</name><affiliation wicri:level="2"><nlm:affiliation>Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, Mexico; Department of Radiology and BRIC, University of North Carolina, Chapel Hill, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, Mexico; Department of Radiology and BRIC, University of North Carolina, Chapel Hill, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Alcauter, Sarael" sort="Alcauter, Sarael" uniqKey="Alcauter S" first="Sarael" last="Alcauter">Sarael Alcauter</name></author><author><name sortKey="Galvez, Victor" sort="Galvez, Victor" uniqKey="Galvez V" first="Victor" last="Galvez">Victor Galvez</name></author><author><name sortKey="Barrios, Fernando A" sort="Barrios, Fernando A" uniqKey="Barrios F" first="Fernando A" last="Barrios">Fernando A. Barrios</name></author><author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name></author><author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name></author><author><name sortKey="Garcia, Lizbeth" sort="Garcia, Lizbeth" uniqKey="Garcia L" first="Lizbeth" last="Garcia">Lizbeth Garcia</name></author><author><name sortKey="Diaz, Rosalinda" sort="Diaz, Rosalinda" uniqKey="Diaz R" first="Rosalinda" last="Diaz">Rosalinda Diaz</name></author><author><name sortKey="Gao, Wei" sort="Gao, Wei" uniqKey="Gao W" first="Wei" last="Gao">Wei Gao</name></author><author><name sortKey="Fernandez Ruiz, Juan" sort="Fernandez Ruiz, Juan" uniqKey="Fernandez Ruiz J" first="Juan" last="Fernandez-Ruiz">Juan Fernandez-Ruiz</name></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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Atrophy (physiopathology)</term><term>Cerebellum (physiopathology)</term><term>Efferent Pathways (physiopathology)</term><term>Female</term><term>Frontal Lobe (physiopathology)</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Nerve Net (physiopathology)</term><term>Neurons (physiology)</term><term>Spinocerebellar Ataxias (physiopathology)</term><term>Visual Pathways (physiopathology)</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Neurons</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Atrophy</term><term>Cerebellum</term><term>Efferent Pathways</term><term>Frontal Lobe</term><term>Nerve Net</term><term>Spinocerebellar Ataxias</term><term>Visual Pathways</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder characterized by progressive ataxia and retinal dystrophy. It is caused by a CAG trinucleotide expansion in the ataxin7 gene. Anatomical studies have shown severe cerebellar degeneration and region-specific neocortical atrophy in SCA7 patients. However, the impact of the neurodegeneration on the functional integration of the remaining tissue is still unknown. The aim of this study was to examine functional connectivity abnormalities in areas with significant gray matter atrophy in SCA7 patients and their relationship with number of CAG repeats. Using a combination of voxel-based morphometry and resting-state fMRI, we studied 26 genetically confirmed SCA7 patients and aged-matched healthy controls. In SCA7 patients we found reduced functional interaction between the cerebellum and the middle and superior frontal gyri, disrupted functional connectivity between the visual and motor cortices, and increased functional coordination between atrophied areas of the cerebellum and a range of visual cortical areas compared with healthy controls. The degree of mutation expansion showed a negative effect on both the functional interaction between the right anterior cerebellum and the left superior frontal gyrus and the connectivity between the right anterior cerebellum and left parahippocampal gyrus. We found abnormal functional connectivity patterns, including both hypo- and hyperconnectivity, compared with controls. These abnormal patterns show reasonable association with the severity of gene mutation. Our findings suggest that aberrant changes are prevalent in both motor and visual systems, adding significantly to our understanding of the pathophysiology of SCA7.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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