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Table 2 Neuroimaging studies with early (ETPKU) and late treated PKU (LTPKU)

From: White matter microstructural damage in early treated phenylketonuric patients

Authors Studied population Studied regions Parameters of DTI Conclusions
Leuzzi et al. 2007 [16] Adult and paediatric patients (n = 32): ETPKU (n = 21) (mean age 17.1 years), LTPKU (n = 11) (mean age 22.4 years. Control group (n = 30) (mean age 32.9 years) (range: 12–58 years). 4 ROI: Parietal (P), Occipital (O), Frontal (F), Temporal (T). MD, FA. Abnormal signal T2-W and FLAIR scans: Parietal periventricular WM abnormalities > O > F > T. WM severity score correlated with age patient at time of the study. MD values and WM scores were closely and inversely correlated (p < .001). Blood and brain Phe levels were closely correlated (p < .001). Brain Phe levels was unrelated with FA values.
Kono et al. 2005 [50] Adult and paediatric patients (n = 21) (mean age 19.4 years) (age range 3–44 years): ETPKU (n = 14), LTPKU (n = 7). Control group (n = 21) (mean age 20.6 years) (age range 3–33 years). 6–10 ROI (anterior and posterior deep WM). MD MD values in posterior deep WM significantly lower than in frontal deep WM (P < .001). MD values in the posterior WM tended to be lower with increased concurrent serum Phe levels (p < .005) and average serum Phe last year of examination (p < .001).
Scarabino et al. 2009 [51] Adult and paediatric patients (n = 32) (mean age 18.9 years): ETPKU (n = 21), LTPKU (n = 11). Control group (n = 30) (mean age 32.9 years). 4 ROI: (P, O, F, T). MD, FA Supratentorial (periventricular and subcortical) abnormal T2: P > O > F > T. Decreased 30–50% of MD compared to control group. FA non correlated with Phe values.