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Dopamine transporter concentration is reduced in asymptomatic Machado-Joseph disease gene carriers

Tzu-Chen Yen1, Kai-Yuan Tzen, Min-Chi Chen

  • 1Department of Nuclear Medicine, Chang Gung Memorial Hospital at Lin-kou and Kee-long, Chang Gung University, Taiwan.

Abstract

Insights

Dopamine transporter (DAT) levels are reduced in Machado-Joseph disease (MJD) patients and even in asymptomatic carriers. (99m)Tc-TRODAT-1 brain SPECT imaging reveals early presynaptic dopamine neuron dysfunction in MJD gene carriers.

Area of Science:

  • Neuroscience
  • Radiology
  • Genetics

Background:

  • Machado-Joseph disease (MJD) is characterized by decreased dopamine transporter (DAT) binding.
  • Early detection of DAT activity changes in asymptomatic MJD (aMJD) gene carriers is crucial for understanding disease progression.

Purpose of the Study:

  • To investigate dopamine transporter (DAT) activity in asymptomatic MJD (aMJD) gene carriers using brain SPECT.
  • To compare DAT binding in aMJD gene carriers, MJD patients, and healthy controls.

Main Methods:

  • Prospective study involving 5 aMJD gene carriers, 10 MJD patients, and 10 healthy controls.
  • Brain SPECT imaging using (99m)Tc-TRODAT-1, a DAT-specific tracer.
  • Measurement of tracer uptake in the striatum by fusing SPECT images with MRI-derived striatal atlases.

Main Results:

  • Significant reduction in DAT uptake was observed in both aMJD gene carriers (P < 0.001) and MJD patients (P < 0.001) compared to controls.
  • The reduction in DAT binding was more severe in MJD patients than in aMJD gene carriers.
  • Lower bilateral putamen-to-caudate ratios were found in both aMJD gene carriers and MJD patients (P < 0.001), indicating prominent dopamine neuron affection in the putamen.

Conclusions:

  • (99m)Tc-TRODAT-1 brain SPECT can detect early alterations in dopamine neurons within the striatal region.
  • Presynaptic dopamine function impairment occurs at an early, previously unrecognized stage in aMJD gene carriers.
  • This imaging technique holds potential for early diagnosis and monitoring of MJD.

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