Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17
| Autor: | Lucio Santoro, Valeria Sansone, Giuseppe De Michele, Alessandro Filla, Andrea Varrone, Anna De Rosa, S. Pappatà, Maria Nolano, Elena Salvatore, Amalia C. Bruni |
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| Přispěvatelé: | Salvatore, Elena, Varrone, A, Sansone, V, Nolano, M, Bruni, Ac, DE ROSA, Anna, Santoro, Lucio, Pappatà, S, Filla, Alessandro, DE MICHELE, Giuseppe |
| Rok vydání: | 2006 |
| Předmět: |
Pathology
medicine.medical_specialty Ataxia medicine Humans Spinocerebellar Ataxias Pathological Dopamine transporter Tomography Emission-Computed Single-Photon biology Putamen Dopaminergic TATA-Box Binding Protein medicine.disease Phenotype Corpus Striatum Substantia Nigra Neurology Spinocerebellar ataxia biology.protein Neurology (clinical) medicine.symptom Trinucleotide Repeat Expansion Psychology Neuroscience Asymptomatic carrier |
| Zdroj: | Movement Disorders. 21:872-875 |
| ISSN: | 0885-3185 |
| DOI: | 10.1002/mds.20827 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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