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
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pubmed:16532453Le document en format XML
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<author><name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name>
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<author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name>
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<author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name>
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<author><name sortKey="Nolano, Maria" sort="Nolano, Maria" uniqKey="Nolano M" first="Maria" last="Nolano">Maria Nolano</name>
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<author><name sortKey="Bruni, Amalia C" sort="Bruni, Amalia C" uniqKey="Bruni A" first="Amalia C" last="Bruni">Amalia C. Bruni</name>
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<author><name sortKey="Santoro, Lucio" sort="Santoro, Lucio" uniqKey="Santoro L" first="Lucio" last="Santoro">Lucio Santoro</name>
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<author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name>
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<author><name sortKey="Nolano, Maria" sort="Nolano, Maria" uniqKey="Nolano M" first="Maria" last="Nolano">Maria Nolano</name>
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<author><name sortKey="Bruni, Amalia C" sort="Bruni, Amalia C" uniqKey="Bruni A" first="Amalia C" last="Bruni">Amalia C. Bruni</name>
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<author><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name>
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<author><name sortKey="Santoro, Lucio" sort="Santoro, Lucio" uniqKey="Santoro L" first="Lucio" last="Santoro">Lucio Santoro</name>
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<author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name>
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<term>Spinocerebellar Ataxias (radionuclide imaging)</term>
<term>Substantia Nigra (radionuclide imaging)</term>
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<term>Tomography, Emission-Computed, Single-Photon</term>
<term>Trinucleotide Repeat Expansion</term>
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<term>Spinocerebellar Ataxias</term>
<term>Substantia Nigra</term>
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<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>
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