Objective To determine the feasibility of conducting a randomised controlled trial of a specialist physiotherapy intervention for functional motor symptoms (FMS). Methods A randomised feasibility study was conducted recruiting patients with a clinically established diagnosis of FMS from a tertiary neurology clinic in London, UK. Participants were randomised to the intervention or a treatment as usual control. Measures of feasibility and clinical outcome were collected and assessed at 6 months. Results 60 individuals were recruited over a 9-month period. Three withdrew, leaving 29 intervention and 28 controls participants in the final analysis. 32% of patients with FMS met the inclusion criteria, of which 90% enrolled. Acceptability of the intervention was high and there were no adverse events. At 6 months, 72% of the intervention group rated their symptoms as improved, compared to 18% in the control group. There was a moderate to large treatment effect across a range of outcomes, including three of eight Short Form 36 (SF36) domains (d=0.46-0.79). The SF36 Physical function was found to be a suitable primary outcome measure for a future trial; adjusted mean difference 19.8 (95% CI 10.2 to 29.5). The additional quality adjusted life years (QALY) with intervention was 0.08 (95% CI 0.03 to 0.13), the mean incremental cost per QALY gained was £12 087. Conclusions This feasibility study demonstrated high rates of recruitment, retention and acceptability. Clinical effect size was moderate to large with high probability of being cost-effective. A randomised controlled trial is needed. Trial registration number NCT02275000; Results.
Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. Objectives: We determined the frequency of GBArelated PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. Methods: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. Results: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. Conclusions: GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles.
The observed relationship between severity of premonitory urges and interoceptive awareness suggests that interoception might be involved in self-reported premonitory urges in GTS. High levels of interoceptive awareness might reflect a self-attentive capacity to perceive urges.
Pisa Syndrome is clinically defined as the sustained lateral bending of the trunk worsened by a prolonged sitting position or by walking. Pisa syndrome, also termed lateral trunk flexion (LTF), has been rarely reported in patients affected by Parkinson's disease (PD) and, therefore, the pathophysiology has been poorly investigated. In some cases, the hyperactivity of paravertebral muscles contralateral to the leaning side has been interpreted as a sign of dystonia; however, it is well known that paravertebral muscles flex the trunk ipsilaterally. We systematically explored the pattern of muscular activation underlying the lateral flexion of trunk in 10 PD patients (mean disease duration: 9.2 ± 3.0 years) presenting LTF for 3.6 ± 2.1 years. EMG performed during stance and during left and right lateral trunk flexion showed a continuous ipsilateral muscular hyperactivity in three patients, while in the remaining ones there was no ipsilateral activity during standing and a tonic contraction of paravertebral muscles contralateral to the leaning side. In conclusion, this EMG study investigating the synergies of paravertebral muscles during dynamic conditions detected two different patterns with a typical dystonic activation in only a minority of cases. Possible pathophysiologic mechanisms and treatment approaches are discussed.
Our data suggest that functional tics can be differentiated from organic tics on clinical grounds, although it is also accepted that this distinction can be difficult in certain cases. Clinical clues from history and examination described here might help to identify patients with functional tics.
BackgroundThe mechanisms leading to the development of functional motor symptoms (FMS) are of pathophysiological and clinical relevance, yet are poorly understood.AimThe aim of the present study was to evaluate whether impaired emotional processing at the cognitive level (alexithymia) is present in patients affected by FMS. We conducted a cross-sectional study in a population of patients with FMS and in two control groups (patients with organic movement disorders (OMD) and healthy volunteers).Methods55 patients with FMS, 33 patients affected by OMD and 34 healthy volunteers were recruited. The assessment included the 20-item Toronto Alexithymia Scale (TAS-20), the Montgomery-Asberg Depression Rating Scale, the Reading the Mind in the Eyes’ Test and the Structured Clinical Interview for Personality Disorders.ResultsAlexithymia was present in 34.5% of patients with FMS, 9.1% with OMD and 5.9% of the healthy volunteers, which was significantly higher in the FMS group (χ2 (2)=14.129, p<0.001), even after controlling for the severity of symptoms of depression. Group differences in mean scores were observed on both the difficulty identifying feelings and difficulty describing feelings dimensions of the TAS-20, whereas the externally orientated thinking subscale score was similar across the three groups. Regarding personality disorder, χ2 analysis showed a significantly higher prominence of obsessive-compulsive personality disorder (OCPD) in the FMS group (χ2 (2)=16.217, p<0.001) and 71.4% of those with OCPD also reached threshold criteria for alexithymia.ConclusionsBecause alexithymia is a mental state denoting the inability to identify emotions at a cognitive level, one hypothesis is that some patients misattribute autonomic symptoms of anxiety, for example, tremor, paraesthesiae, paralysis, to that of a physical illness. Further work is required to understand the contribution of OCPD to the development of FMS.
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