P149 Dopa-responsive dystonia revisited: Diagnostic delay and residual symptoms

Dopa-responsive dystonia—clinical and genetic heterogeneity

“…A large literature review reported the mean age of onset as 11.6 years among 352 patients with genetically proven autosomal dominant GTP-CH-I deficiency, compared with 9.4 years among 28 patients in a pilot study. 24 The incidence of autosomal dominant GTP-CH-I is generally reported to be 2.5-4.0-fold greater among females than among males, 27 although in one series, the female:male ratio was even larger, at 25:3. 19 In males, disease onset tends to be later, the phenotype is often milder, and the penetrance of the mutation is lower than in females.…”

“…19,[20][21][22][23][24][25][26] The disease typically presents between infancy and adolescence. In one series of 28 patients, the average age of onset was 6.9 ± 2.9 years (except for one patient in whom the onset of symptoms occurred at age 54 years).…”

Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin

“…Several studies have reported increased prevalence of anxiety and major depression in DRD patients (Hahn et al, 2001;Van Hove et al, 2006;Trender-Gerhard et al, 2009;Tadic et al, 2012). The current study demonstrated that the affective distubances seen in DRD patients partly translates back to the hph-1 mice.…”

“…disorder characterised by dystonia-related gait problems (Romstad et al, 2003). Besides this classical clinical manifestation, studies report increased prevalence of anxiety and major depression in DRD patients (Hahn et al, 2001;Van Hove et al, 2006;TrenderGerhard et al, 2009;Tadic et al, 2012).…”

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment

“…Mild/ moderate depression was identified in 9/14 women while the men remained asymptomatic. All individuals were receiving dopaminergic therapy at the time of assessment [13]. Two studies have sought to address psychiatric, cognitive and sleep disturbance symptoms [14,15].…”