MovDisordV3, Main, Exploration, bibRecord, 003536

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17

Identifieur interne : 003536 ( Main/Exploration ); précédent : 003535; suivant : 003537

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17

Auteurs : Elena Salvatore [Italie] ; Andrea Varrone [Italie] ; Valeria Sansone [Italie] ; Maria Nolano [Italie] ; Amalia C. Bruni [Italie] ; Anna De Rosa [Italie] ; Lucio Santoro [Italie] ; Sabina Pappatà [Italie] ; Alessandro Filla [Italie] ; Giuseppe De Michele [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-06-06.

RBID : ISTEX:23CCE3E1BF064514BF7552F2ECD1A53C79E01E73

Descripteurs français

Pascal (Inist)
- Ataxie spinocérébelleuse, Photon, Système nerveux pathologie, Tomoscintigraphie émission monophotonique, Trouble fonctionnel, Voie dopaminergique, Voie nigrostriatale.

English descriptors

KwdEn :
- Corpus Striatum (radionuclide imaging), Dopaminergic pathway, Dysfunction, Humans, Nervous system diseases, Nigrostriatal pathway, Photon, SCA17, Single photon emission tomography, Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (radionuclide imaging), Spinocerebellar ataxia, Substantia Nigra (radionuclide imaging), TATA-Box Binding Protein (genetics), Tomography, Emission-Computed, Single-Photon, Trinucleotide Repeat Expansion, [123I]‐FP‐CIT SPECT, nigrostriatal dopaminergic pathway, spinocerebellar ataxia.
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. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/23CCE3E1BF064514BF7552F2ECD1A53C79E01E73/fulltext/pdf

DOI: 10.1002/mds.20827

Affiliations:

Italie

Le document en format XML

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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. © 2006 Movement Disorder Society</div>
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Movement Disorders (revue)

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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	Movement Disorders (revue)
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