Skip to main content

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.