Table 1 Neuroimaging studies with revision samples only ETPKU
From: White matter microstructural damage in early treated phenylketonuric patients
Authors | Studied population | Studied regions | Parameters of DTI | Conclusions |
|---|---|---|---|---|
Vermathen et al. 2007 [7] | ETPKU adult patients (mean age 32.5 years) (n = 9). Control group (mean age 29.4 years) (n = 7). | Grey and white matter tracts. Include corpus callosum (CC) | MD, FA | Decreased MD and FA values in lesions and CC. Decreased MD and FA values correlated negatively with Phe values. |
White et al. 2010 [8] | ETPKU paediatric patients (mean age 12.2 years) (n = 34). Control group (mean age 12.4 years) (n = 61). | 6 ROI (region of interest) of CC (genu, rostral body, anterior midbody, posterior midbody, isthmus and splenium) | MD, RA = FA | Decreased MD values in anterior part of CC. Non significant differences in FA compared to control group. Age related decrement of anterior WM of CC. Non-significant correlations with MD and Phe values. |
White et al. 2013 [9] | ETPKU adults and paediatric patients BH4 responders (mean age 18.2 years) (n = 12). Control group (mean age 17.8 years) (n = 9). | 10 ROI. Include CC (genu, body and splenium) | MD | Basal MD values improve after 6 months with BH4 treatment. MD values correlate negatively with Phe levels. |
Atenor-Dorsey et al. 2013 [10] | ETPKU adults and paediatric patients (mean age 18 years) (n = 29). Control group (mean age 17.8 years) (n = 12) | 10 ROI. Include CC (genu, body and splenium) | MD, FA | Decreased MD values correlated with poor executive functions. Decreased MD values compared to control group. Non significant differences in FA values compared to control group. |
Peng et al. 2014 [11] | ETPKU adult and paediatric patients (mean age 23.3 years) (n = 10). Control group (mean age 23.5 years) (n = 12). | 12 ROI. Include CC (genu, body and splenium) | MD, RD, AD, FA | Decreased MD, RD and AD values in WM tracts and CC compared to control group. Decreased MD, RD and AD values correlated with older ETPKU. Non-significant differences in FA compared to control group. |
Wesonga et al. 2016 [12] | ETPKU paediatric patients (mean age 12.2 years) (n = 31). Control group (mean age = 12 years) (n = 51). | 10 ROI. Include CC (genu, body and splenium) | MD | Age correlated with decreased MD values in 4 out of 10 ROI. |
Hood et al. 2015 [13] | ETPKU paediatric patients (mean age 12.2 years) (n = 36). Control group (n = 24). | Over 10 ROI. Include CC (genu, body and splenium) | MD | Decreased MD values were correlated with high exposure of Phe levels. |
Hood et al. 2016 [14] | ETPKU paediatric patients (mean age 12.2 years) (n = 36). Control group (n = 62). | 2 ROI: PPO (posterior parietal-occipital) CSO (centrum semiovale). | MD, RD, FA | Decreased MD and RD values compared to control group. Non significant differences in FA compared to control group. |
Ding et al. 2008 [15] | Adult patients (range 17–32 years): ETPKU (n = 4). Control group (n = 4). | 22 ROI. Include CC (corpus and splenium). | MD, FA | Decreased MD values in WM and GM (grey matter) than control group. FA non significant differences than control group. |