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.
Salvatore
Elena
E
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy. esalv@inwind.it
Varrone
Andrea
A
Sansone
Valeria
V
Nolano
Maria
M
Bruni
Amalia C
AC
De Rosa
Anna
A
Santoro
Lucio
L
Pappatà
Sabina
S
Filla
Alessandro
A
De Michele
Giuseppe
G
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