[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism

J Neurol Sci. 2008 Oct 15;273(1-2):148-51. doi: 10.1016/j.jns.2008.06.033. Epub 2008 Aug 3.


Rapid-onset dystonia-parkinsonism (RDP) is a rare, autosomal-dominantly inherited syndrome characterized by abrupt onset, over hours to days, of dystonic and parkinsonian symptoms. To date, RDP has been described in a small number of families, and in only four sporadic cases.

Methods: We here report a new sporadic case of RDP who has a novel de novo mutation in the ATP1A3 gene. Striatal dopamine transporters have been assessed quantitatively using [123I]-FP-CIT SPECT. A volume of interest (VOI) was drawn within the occipital cortex to obtain non-specific activity and specific to non-specific binding ratios (BR) were calculated. A single template of predefined VOI 3D-drawn on right and left caudate nucleus and putamen was applied to the spatially normalized BR images. BR values were compared to those obtained from an age-matched control group and from a group of patients suffering from Parkinson's disease (Hoehn and Yahr score 2 or 3). A [99mTc]-HMPAO cerebral blood flow study was also performed.

Results: In the control group, BR values (mean+/-Standard Deviation) were 3.5+/-0.4 for the left striatum and 3.3+/-0.3 for the right one. RDP patient's values were 3 and 2.7, respectively. In the Parkinson group, values were 1.6+/-0.3 and 1.7+/-0.4, respectively. [99mTc]-HMPAO scan showed homogeneous cortical and sub-cortical perfusion.

Conclusion: Quantification of striatal [123I]-FP-CIT uptake in a new sporadic case of RDP with a novel mutation in the ATP1A3 gene showed values just within the range of normality. [99mTc]-HMPAO scan was normal.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dystonia / complications
  • Dystonia / diagnostic imaging*
  • Dystonia / genetics
  • Humans
  • Iodine Radioisotopes
  • Male
  • Mutation
  • Parkinson Disease / complications
  • Parkinson Disease / diagnostic imaging*
  • Parkinson Disease / genetics
  • Sodium-Potassium-Exchanging ATPase / genetics
  • Technetium Tc 99m Exametazime*
  • Tomography, Emission-Computed, Single-Photon* / methods
  • Tomography, X-Ray Computed / methods


  • ATP1A3 protein, human
  • Iodine Radioisotopes
  • Technetium Tc 99m Exametazime
  • Sodium-Potassium-Exchanging ATPase