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000155816 1001_ $$0P:(DE-2719)9000943$$aPilotto, Andrea$$b0$$udzne
000155816 245__ $$aPhenylalanine Effects on Brain Function in Adult Phenylketonuria.
000155816 260__ $$a[S.l.]$$bOvid$$c2021
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000155816 520__ $$aTo evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria.In this prospective cross-sectional study, early-treated patients with phenylketonuria older than 30 years and age- and sex-matched controls were included. Extensive neurologic evaluation, neuropsychological and behavioral testing, sensory and motor evoked potentials, and MRI were performed. CSF concentrations of neurodegenerative markers were evaluated in addition in a subset of 10 patients.Nineteen patients with phenylketonuria (median age 41 years) with different phenylalanine levels (median 873 μmol/L) entered the study. They showed higher prevalence of neurologic symptoms, cognitive and behavioral abnormalities, autonomic dysfunction, alterations in neurophysiologic measures, and atrophy in putamen and right thalamus compared to controls. In CSF, patients with phenylketonuria exhibited higher β-amyloid 1-42 (p = 0.003), total tau (p < 0.001), and phosphorylated tau (p = 0.032) levels compared to controls. Plasma phenylalanine levels highly correlated with the number of failed neuropsychological tests (r = 0.64, p = 0.003), neuropsychiatric symptoms (r = 0.73, p < 001), motor evoked potential latency (r = 0.48, p = 0.030), and parietal lobe atrophy.Our study provides strong evidence for a correlation between phenylalanine levels and clinical, neuropsychological, neurophysiologic, biochemical, and imaging alterations in adult patients with phenylketonuria.
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000155816 650_7 $$047E5O17Y3R$$2NLM Chemicals$$aPhenylalanine
000155816 650_2 $$2MeSH$$aAdult
000155816 650_2 $$2MeSH$$aAtrophy: blood
000155816 650_2 $$2MeSH$$aAtrophy: diagnostic imaging
000155816 650_2 $$2MeSH$$aAtrophy: psychology
000155816 650_2 $$2MeSH$$aCognition: physiology
000155816 650_2 $$2MeSH$$aCross-Sectional Studies
000155816 650_2 $$2MeSH$$aEvoked Potentials, Motor: physiology
000155816 650_2 $$2MeSH$$aFemale
000155816 650_2 $$2MeSH$$aHumans
000155816 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000155816 650_2 $$2MeSH$$aMale
000155816 650_2 $$2MeSH$$aNeuropsychological Tests
000155816 650_2 $$2MeSH$$aPhenylalanine: blood
000155816 650_2 $$2MeSH$$aPhenylketonurias: blood
000155816 650_2 $$2MeSH$$aPhenylketonurias: diagnostic imaging
000155816 650_2 $$2MeSH$$aPhenylketonurias: psychology
000155816 650_2 $$2MeSH$$aProspective Studies
000155816 650_2 $$2MeSH$$aPutamen: diagnostic imaging
000155816 650_2 $$2MeSH$$aThalamus: diagnostic imaging
000155816 7001_ $$00000-0002-4396-4796$$aZipser, Carl M$$b1
000155816 7001_ $$aLeks, Edytha$$b2
000155816 7001_ $$aHaas, Dorothea$$b3
000155816 7001_ $$aGramer, Gwendolyn$$b4
000155816 7001_ $$aFreisinger, Peter$$b5
000155816 7001_ $$0P:(DE-2719)2811829$$aSchaeffer, Eva$$b6
000155816 7001_ $$0P:(DE-2719)2109499$$aLiepelt-Scarfone, Inga$$b7
000155816 7001_ $$0P:(DE-2719)2811916$$aBrockmann, Kathrin$$b8
000155816 7001_ $$0P:(DE-2719)2810915$$aMaetzler, Walter$$b9
000155816 7001_ $$0P:(DE-2719)9000366$$aSchulte, Claudia$$b10
000155816 7001_ $$0P:(DE-2719)2812432$$aDeuschle, Christian$$b11
000155816 7001_ $$0P:(DE-2719)2351249$$aHauser, Ann Kathrin$$b12
000155816 7001_ $$aHoffmann, Georg F$$b13
000155816 7001_ $$aScheffler, Klaus$$b14
000155816 7001_ $$avan Spronsen, Francjan J$$b15
000155816 7001_ $$aPadovani, Alessandro$$b16
000155816 7001_ $$aTrefz, Friedrich$$b17
000155816 7001_ $$0P:(DE-2719)2000059$$aBerg, Daniela$$b18$$eLast author
000155816 773__ $$0PERI:(DE-600)1491874-2$$a10.1212/WNL.0000000000011088$$gVol. 96, no. 3, p. e399 - e411$$n3$$pe399 - e411$$tNeurology$$v96$$x1526-632X$$y2021
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