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


CONCLUSIONS
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.
Zanotti-Fregonara
Paolo
P
DSV/I(2)BM/SHFJ/LMNRB, Commissariat à l'Energie Atomique, Orsay, France. paolo.zanotti-fregonara@cea.fr
Vidailhet
Marie
M
Kas
Aurélie
A
Ozelius
Laurie J
LJ
Clot
Fabienne
F
Hindié
Elif
E
Ravasi
Laura
L
Devaux
Jean-Yves
JY
Roze
Emmanuel
E
D000328:Adult; D004421:Dystonia / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007457:Iodine Radioisotopes; D008297:Male; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics; D019690:Technetium Tc 99m Exametazime; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D014057:Tomography, X-Ray Computed / Q000379:methods
C488756:ATP1A3 protein, human; D007457:Iodine Radioisotopes; D019690:Technetium Tc 99m Exametazime; D000254:Sodium-Potassium-Exchanging ATPase