Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
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.
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy. esalv@inwind.it
Elena
E
Salvatore
Andrea
A
Varrone
Valeria
V
Sansone
Maria
M
Nolano
Amalia C
AC
Bruni
Anna
A
De Rosa
Lucio
L
Santoro
Sabina
S
Pappatà
Alessandro
A
Filla
Giuseppe
G
De Michele
D003342:Corpus Striatum / Q000000981:diagnostic imaging*; D006801:Humans; D020754:Spinocerebellar Ataxias / Q000000981:diagnostic imaging / Q000235:genetics*; D013378:Substantia Nigra / Q000000981:diagnostic imaging*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon; D019680:Trinucleotide Repeat Expansion
D035181:TATA-Box Binding Protein; C509817:TBP protein, human