Substantial psychiatric symptoms, sleep disturbances and reduced quality of life in well-treated adult patients with GTP-cyclohydrolase deficient dopa-responsive dystonia
Objective: The aim of this study was to systematically investigate the prevalence of psychiatric disorders, sleep problems and health-related quality of life (HRQoL) in patients…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…Functional characterization of the upstream start codon in the GCH1 gene
Objective: To examine (1) the -22C > T point mutation which introduces a premature start codon upstream of the normal open reading frame (ORF) of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.