Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
Identifieur interne : 001590 ( Ncbi/Curation ); précédent : 001589; suivant : 001591Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
Auteurs : Elena Salvatore [Italie] ; Andrea Varrone ; Valeria Sansone ; Maria Nolano ; Amalia C. Bruni ; Anna De Rosa ; Lucio Santoro ; Sabina Pappatà ; Alessandro Filla ; Giuseppe De MicheleSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : TATA-Box Binding Protein.
- genetics : Spinocerebellar Ataxias.
- radionuclide imaging : Corpus Striatum, Spinocerebellar Ataxias, Substantia Nigra.
- Humans, Tomography, Emission-Computed, Single-Photon, Trinucleotide Repeat Expansion.
Abstract
Extrapyramidal signs are a main feature of spinocerebellar ataxia 17 (SCA17). However, the extent of dopaminergic dysfunction and its correlation with parkinsonian signs are not fully understood. In order to define this, we investigated five subjects from three different families with a pathological CAG/CAA expansion in the TATA-binding protein gene (SCA17), ranging from asymptomatic carrier to patient with advanced disease, by FP-CIT SPECT. Nigrostriatal dysfunction was present in patients manifesting a fully developed phenotype but not in preclinical and early stages. Dopamine transporter reduction was symmetrical and uniform in caudate and putamen and it correlated with the clinical severity of ataxia.
DOI: 10.1002/mds.20827
PubMed: 16532453
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002D41
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002D41
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002E24
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001590
Links to Exploration step
pubmed:16532453Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.</title><author><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurological Sciences, University of Naples Federico II, Naples, Italy. esalv@inwind.it</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Naples Federico II, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name></author><author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name></author><author><name sortKey="Nolano, Maria" sort="Nolano, Maria" uniqKey="Nolano M" first="Maria" last="Nolano">Maria Nolano</name></author><author><name sortKey="Bruni, Amalia C" sort="Bruni, Amalia C" uniqKey="Bruni A" first="Amalia C" last="Bruni">Amalia C. Bruni</name></author><author><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name></author><author><name sortKey="Santoro, Lucio" sort="Santoro, Lucio" uniqKey="Santoro L" first="Lucio" last="Santoro">Lucio Santoro</name></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20827</idno><idno type="RBID">pubmed:16532453</idno><idno type="pmid">16532453</idno><idno type="wicri:Area/PubMed/Corpus">002D41</idno><idno type="wicri:Area/PubMed/Curation">002D41</idno><idno type="wicri:Area/PubMed/Checkpoint">002E24</idno><idno type="wicri:Area/Ncbi/Merge">001590</idno><idno type="wicri:Area/Ncbi/Curation">001590</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.</title><author><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurological Sciences, University of Naples Federico II, Naples, Italy. esalv@inwind.it</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Naples Federico II, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name></author><author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name></author><author><name sortKey="Nolano, Maria" sort="Nolano, Maria" uniqKey="Nolano M" first="Maria" last="Nolano">Maria Nolano</name></author><author><name sortKey="Bruni, Amalia C" sort="Bruni, Amalia C" uniqKey="Bruni A" first="Amalia C" last="Bruni">Amalia C. Bruni</name></author><author><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name></author><author><name sortKey="Santoro, Lucio" sort="Santoro, Lucio" uniqKey="Santoro L" first="Lucio" last="Santoro">Lucio Santoro</name></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name></author><author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Corpus Striatum (radionuclide imaging)</term><term>Humans</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (radionuclide imaging)</term><term>Substantia Nigra (radionuclide imaging)</term><term>TATA-Box Binding Protein (genetics)</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>TATA-Box Binding Protein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Corpus Striatum</term><term>Spinocerebellar Ataxias</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Trinucleotide Repeat Expansion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Extrapyramidal signs are a main feature of spinocerebellar ataxia 17 (SCA17). However, the extent of dopaminergic dysfunction and its correlation with parkinsonian signs are not fully understood. In order to define this, we investigated five subjects from three different families with a pathological CAG/CAA expansion in the TATA-binding protein gene (SCA17), ranging from asymptomatic carrier to patient with advanced disease, by FP-CIT SPECT. Nigrostriatal dysfunction was present in patients manifesting a fully developed phenotype but not in preclinical and early stages. Dopamine transporter reduction was symmetrical and uniform in caudate and putamen and it correlated with the clinical severity of ataxia.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001590 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001590 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:16532453
|texte= Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:16532453" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |