Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

Table 2 Striatal uptake on radiotracer imaging in our patient compared with mean uptake in normal databases

Numbers represent percent of uptake (%) and standard deviation (SD) compared with mean uptake in normal databases for the three radiotracers. DAT (dopamine transporter)-SPECT (¹²³I-ioflupane single-photon emission computed tomography) uptake was compared with a commercial database (DaTQuant, GE) that included an extrapolation for age. SPECT with ¹²³I-epidepride (which binds to dopamine type 2-receptors) was compared with a non-age-matched database (older patient group, because this modality is very rarely used in the patient’s age group; local data, Hermes BRASS). ¹⁸Fluoro-Deoxy-Glucose (FDG)–PET was compared with an age-matched database (local data, PMOD PNEURO)

ISSN: 1866-1955