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

• Published in: Journal of the neurological sciences 2008-10, Vol.273 (1), p.148-151
• Main Authors: Zanotti-Fregonara, Paolo, Vidailhet, Marie, Kas, Aurélie, Ozelius, Laurie J, Clot, Fabienne, Hindié, Elif, Ravasi, Laura, Devaux, Jean-Yves, Roze, Emmanuel
• Format: Article
• Language: English
• Subjects: [ 123I]-FP-CIT; [ 99mTc]-HMPAO; Adult; Biological and medical sciences; Diseases of striated muscles. Neuromuscular diseases; Dystonia - complications; Dystonia - diagnostic imaging; Dystonia - genetics; Humans; Iodine Radioisotopes; Male; Medical sciences; Mutation; Neurology; Parkinson Disease - complications; Parkinson Disease - diagnostic imaging; Parkinson Disease - genetics; Rapid-onset dystonia-parkinsonism; Sodium-Potassium-Exchanging ATPase - genetics; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon - methods; Tomography, X-Ray Computed - methods
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2008.06.033

Abstract 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 [123 I]-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 [99m Tc]-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. [99m Tc]-HMPAO scan showed homogeneous cortical and sub-cortical perfusion. Conclusion Quantification of striatal [123 I]-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. [99m Tc]-HMPAO scan was normal.