Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B

• Verfasst von: Leuzzi, Vincenzo [VerfasserIn]
• Verfasst von: Hoffmann, Georg Friedrich [VerfasserIn]
• Titel: Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B
• Verf.angabe: Vincenzo Leuzzi, Mario Mastrangelo, Maria Teresa Giannini, Riccardo Carbonetti, Georg F. Hoffmann
• Jahr: 2017
• Jahr des Originals: 2016
• Umfang: 2 S.
• Fussnoten: First published: December 20, 2016 ; Gesehen am 28.08.2018
• Titel Quelle: Enthalten in: Neurology
• Ort Quelle: Philadelphia, Pa. : Wolters Kluwer, 1951
• Jahr Quelle: 2017
• Band/Heft Quelle: 88(2017), 5, Seite 501-502
• ISSN Quelle: 1526-632X
• DOI: doi:10.1212/WNL.0000000000003539
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1580465501

Abstract

Tyrosine hydroxylase deficiency (THD) is an autosomal recessive disorder resulting in severe dopamine depletion, with fewer than 70 patients diagnosed worldwide. Most of the reported cases of THD belong to 2 phenotypes: an infantile progressive hypokinetic-rigid syndrome with dystonia (type A) and a neonatal/early-onset severe encephalopathy (type B). Given the early onset, the extensive involvement of neurologic development, and the limited response to dopaminergic medications, prognosis for THD type B is poor. Twenty patients with THD type B have been described so far, with no data on long-term outcome. We report follow-up lasting 17 years with serial video recordings of the index case of THD type B.