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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
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Published on: May 21, 2010

Striatal dopamine function in a family with multiple SCA-3 phenotypes.

Esther Cubo1, Mateo Diez López, Jon Infante Ceberio

  • 1Department of Neurology, Hospital General Yagüe, Avda Cid 96, 09005, Burgos, Spain. esthercubo@gmail.com

Journal of Neurology
|September 3, 2010
PubMed
Summary

Spinocerebellar ataxia type 3 (SCA-3) can present with parkinsonism. Dopamine transporter (DAT) scan imaging revealed reduced dopamine function in SCA-3 patients with parkinsonian symptoms.

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Area of Science:

  • Neuroimaging
  • Neurology
  • Genetics

Background:

  • Spinocerebellar ataxia type 3 (SCA-3) is a genetic neurodegenerative disorder.
  • Clinical presentation of SCA-3 can include parkinsonian features.

Observation:

  • Four family members with genetically confirmed SCA-3 underwent SPECT imaging.
  • SPECT studies utilized 123I-ioflupane (DAT scan) and 123I-IBZM to assess dopamine transporter and D2 receptor binding.

Findings:

  • DAT scans showed asymmetric striatal binding reduction in SCA-3 patients with parkinsonism.
  • Mild, symmetric binding reduction was observed in the patient with cerebellar phenotype; normal in the asymptomatic individual.
  • 123I-IBZM SPECT revealed reduced dopamine D2 receptor density in parkinsonian SCA-3 members.

Implications:

  • SCA-3 may manifest as levodopa-responsive parkinsonism.
  • Abnormal DAT scans indicate impaired presynaptic dopamine function in SCA-3.
  • SPECT imaging can help characterize the phenotype and pathophysiology of SCA-3.