Gene therapy improves brain white matter in aromatic l‐amino acid decarboxylase deficiency

• Published in: Annals of neurology Vol. 85; no. 5; pp. 644 - 652
• Main Authors: Tseng, Chih‐Hsien, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Hsu, Yung‐Chin, Peng, Shinn‐Forng, Tseng, Wen‐Yih I., Hwu, Wuh‐Liang
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.05.2019; Wiley Subscription Services, Inc
• Subjects: Acids; Amino Acid Metabolism, Inborn Errors - diagnostic imaging; Amino Acid Metabolism, Inborn Errors - genetics; Amino Acid Metabolism, Inborn Errors - therapy; Amino acids; Anisotropy; Aromatic-L-Amino-Acid Decarboxylases - deficiency; Aromatic-L-Amino-Acid Decarboxylases - genetics; Brain; Brain - diagnostic imaging; Child; Child, Preschool; Children; Confidence intervals; Diffusion Magnetic Resonance Imaging - trends; Dopamine; Female; Fibers; Gene therapy; Human motion; Humans; Infant; Integrity; Magnetic resonance imaging; Male; Neuroimaging; Patients; Putamen; Pyramidal tracts; Radiation; Restoration; Substantia alba; Tensors; Thalamus; White Matter - diagnostic imaging

Objective Children with aromatic l‐amino acid decarboxylase (AADC) deficiency suffer from severe motor dysfunction. Restoration of dopamine levels in the putamen by gene therapy has led to significant improvement in motor function. This study explored brain structure changes in patients. Methods Bra...