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001     155816
005     20230915092341.0
024 7 _ |a 10.1212/WNL.0000000000011088
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024 7 _ |a 1526-632X
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037 _ _ |a DZNE-2021-00976
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Pilotto, Andrea
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245 _ _ |a Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
260 _ _ |a [S.l.]
|c 2021
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520 _ _ |a To 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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650 _ 7 |a Phenylalanine
|0 47E5O17Y3R
|2 NLM Chemicals
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Atrophy: blood
|2 MeSH
650 _ 2 |a Atrophy: diagnostic imaging
|2 MeSH
650 _ 2 |a Atrophy: psychology
|2 MeSH
650 _ 2 |a Cognition: physiology
|2 MeSH
650 _ 2 |a Cross-Sectional Studies
|2 MeSH
650 _ 2 |a Evoked Potentials, Motor: physiology
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Magnetic Resonance Imaging
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Neuropsychological Tests
|2 MeSH
650 _ 2 |a Phenylalanine: blood
|2 MeSH
650 _ 2 |a Phenylketonurias: blood
|2 MeSH
650 _ 2 |a Phenylketonurias: diagnostic imaging
|2 MeSH
650 _ 2 |a Phenylketonurias: psychology
|2 MeSH
650 _ 2 |a Prospective Studies
|2 MeSH
650 _ 2 |a Putamen: diagnostic imaging
|2 MeSH
650 _ 2 |a Thalamus: diagnostic imaging
|2 MeSH
700 1 _ |a Zipser, Carl M
|0 0000-0002-4396-4796
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700 1 _ |a Leks, Edytha
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700 1 _ |a Haas, Dorothea
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700 1 _ |a Gramer, Gwendolyn
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700 1 _ |a Freisinger, Peter
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700 1 _ |a Schaeffer, Eva
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700 1 _ |a Liepelt-Scarfone, Inga
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700 1 _ |a Brockmann, Kathrin
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700 1 _ |a Maetzler, Walter
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700 1 _ |a Schulte, Claudia
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700 1 _ |a Deuschle, Christian
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700 1 _ |a Hauser, Ann Kathrin
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700 1 _ |a Hoffmann, Georg F
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700 1 _ |a Scheffler, Klaus
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700 1 _ |a van Spronsen, Francjan J
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700 1 _ |a Padovani, Alessandro
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700 1 _ |a Trefz, Friedrich
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700 1 _ |a Berg, Daniela
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773 _ _ |a 10.1212/WNL.0000000000011088
|g Vol. 96, no. 3, p. e399 - e411
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