Psychogenic paroxysmal movement disorders – Clinical features and diagnostic clues

AbstractBackgroundThe diagnosis of psychogenic paroxysmal movement disorders (PPMD) can be challenging, in particular their distinction from the primary paroxysmal dyskinesias (PxD) remains difficult.MethodsHere we present a large series of 26 PPMD cases, describe their characteristics, contrast them with primary PxD and focus on their distinguishing diagnostic features.ResultsMean age at onset was 38.6 years, i.e. much later than primary PxD. Women were predominantly affected (73%). Most subjects (88.4%) had long attacks, and unlike primary PxD there was a very high within-subject variability for attack phenomenology, duration and frequency. Dystonia was the most common single movement disorder presentation, but 69.2% of the patients had mixed or complex PxD. In 50% of PPMD cases attack triggers could be identified but these were unusual for primary PxD. 42.3% of patients employed unusual strategies to alleviate or stop the attacks. Response to typical medication used for primary PxD was poor. Precipitation of the disorder due to physical or emotional life events and stressors were documented in 57.6% and 65.3% of the cases respectively. Additional interictal psychogenic signs were documented in 34.6% and further medically unexplained somatic symptoms were present in 50% of the cases. 19.2% of patients had a comorbid organic movement disorder and 26.9% had pre-existing psychiatric comorbidities.ConclusionAlthough the phenotypic presentation of PPMD can be highly diverse, certain clinical characteristics help in distinguishing this condition from the primary forms of PxD. Recognition is important as multidisciplinary treatment approaches led to significant improvement in most cases

A priori collaboration in population imaging: The Uniform Neuro-Imaging of Virchow-Robin Spaces Enlargement consortium

Introduction: Virchow-Robin spaces (VRS), or perivascular spaces, are compartments of interstitial fluid enclosing cerebral blood vessels and are potential imaging markers of various underlying brain pathologies. Despite a growing interest in the study of enlarged VRS, the heterogeneity in rating and quantification methods combined with small sample sizes have so far hampered advancement in the field. Methods: The Uniform Neuro-Imaging of Virchow-Robin Spaces Enlargement (UNIVRSE) consortium was established with primary aims to harmonize rating and analysis (www.uconsortium.org). The UNIVRSE consortium brings together 13 (sub)cohorts from five countries, totaling 16,000 subjects and over 25,000 scans. Eight different magnetic resonance imaging protocols were used in the consortium. Results: VRS rating was harmonized using a validated protocol that was developed by the two founding members, with high reliability independent of scanner type, rater experience, or concomitant brain pathology. Initial analyses revealed risk factors for enlarged VRS including increased age, sex, high blood pressure, brain infarcts, and white matter lesions, but this varied by brain region. Discussion: Early collaborative efforts between cohort studies with respect to data harmonization and joint analyses can advance the field of population (neuro)imaging. The UNIVRSE consortium will focus efforts on other potential correlates of enlarged VRS, including genetics, cognition, stroke, and dementia

Gait in SWEDDs patients:comparison with Parkinson's disease patients and healthy controls

Patients diagnosed with Parkinson's disease on clinical grounds who subsequently turn out to have normal dopamine transporter imaging have been referred to as SWEDDs (scans without evidence of dopaminergic deficits). Despite having clinical features similar to those of Parkinson's disease, these patients seem to have different pathophysiology, prognosis, and treatment requirements. In this study we determined the similarities and differences in the gaits of SWEDDs and Parkinson's disease patients to investigate whether walking patterns can distinguish these entities. We used 3-D motion capture to analyze the gaits of 11 SWEDDs patients (who had unilateral or asymmetric upper limb tremor with a rest component), 12 tremor-dominant Parkinson's disease patients, and 13 healthy control participants. In common with Parkinson's disease patients, SWEDDs patients had a slow gait mainly because of a small stride length, as well as a reduced arm swing. However, several abnormal features of posture and gait in Parkinson's disease were normal in SWEDDs. Thus, SWEDDs patients had normal trunk and elbow posture, normal stride length variability, and normal bilateral step-phase coordination, all of which were abnormal in Parkinson's disease patients. We also searched for signs of ataxic movements during normal and tandem walking, but found no evidence that ataxic gait was a general feature in SWEDDs. These findings could aid the clinician in identification of potential tremulous SWEDDs cases. (C) 2011 Movement Disorder Societ

Dopaminergic medication boosts action-effect binding in Parkinson's disease

Parkinson's disease (PD) is a neurodegenerative disorder affecting voluntary motor control. However, little is known about the experience of voluntary action in PD patients. A key component of action experience is the feeling of controlling one's own actions, and through them, external events. In healthy individuals this sense of agency (SoA) is associated with a subjective compression of time, such that actions and their effects are perceived as bound together across time. This action-effect binding provides an indirect measure of SoA. Nine PD patients and age-matched controls judged the time of voluntary actions and of an auditory effect (a tone) of the action. The pattern of results resembled previous studies, with the perceived time of actions showing a shift towards the subsequent tone, relative to a baseline condition involving actions without tones. Similarly, the perceived times of tones showed a shift towards the preceding action that caused the tone, relative to a baseline condition involving tones only. The patients were tested both on and off dopaminergic medication. PD patients off medication showed no significant change in action-effect binding relative to controls. Conversely, PD patients on medication showed a significant increase in action-effect binding relative to their own performance off medication. Increased availability of dopamine strengthened the experience of association between actions and external events, enhancing the sense of agency. These results shed light on the contribution of dopamine to the experience of instrumental action, and also on impulse control disorders and psychosis in medicated PD patients

Validation of "laboratory-supported" criteria for functional (psychogenic) tremor

BACKGROUND: In a small group of patients, we have previously shown that a combination of electrophysiological tests was able to distinguish functional (psychogenic) tremor and organic tremor with excellent sensitivity and specificity. OBJECTIVES: This study aims to validate an electrophysiological test battery as a tool to diagnose patients with functional tremor with a "laboratory-supported" level of certainty. METHODS: For this prospective data collection study, we recruited 38 new patients with functional tremor (mean age 37.9 ± 24.5 years; mean disease duration 5.9 ± 9.0 years) and 73 new patients with organic tremor (mean age 55.4 ± 25.4 years; mean disease duration 15.8 ± 17.7 years). Tremor was recorded at rest, posture (with and without loading), action, while performing tapping tasks (1, 3, and 5 Hz), and while performing ballistic movements with the less-affected hand. Electrophysiological tests were performed by raters blinded to the clinical diagnosis. We calculated a sum score for all performed tests (maximum of 10 points) and used a previously suggested cut-off score of 3 points for a diagnosis of laboratory-supported functional tremor. RESULTS: We demonstrated good interrater reliability and test-retest reliability. Patients with functional tremor had a higher average score on the test battery when compared with patients with organic tremor (3.6 ± 1.4 points vs 1.0 ± 0.8 points; P < .001), and the predefined cut-off score for laboratory-supported functional tremor yielded a test sensitivity of 89.5% and a specificity of 95.9%. CONCLUSION: We now propose this test battery as the basis of laboratory-supported criteria for the diagnosis of functional tremor, and we encourage its use in clinical and research practice. © 2016 International Parkinson and Movement Disorder Society

Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations

Seven autosomal recessive genes associated with juvenile and young-onset Levodopa-responsive parkinsonism have been identified. Mutations in PRKN, DJ-1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of dementia. On the other hand, Kufor-Rakeb syndrome has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, myoclonic jerks, pyramidal signs, and cognitive impairment. Neurodegeneration with brain iron accumulation type I (Hallervorden-Spatz syndrome) due to mutations in PANK2 gene may share similar features with Kufor-Rakeb syndrome. Mutations in three other genes, PLA2G6 (PARK14), FBXO7 (PARK15), and Spatacsin (SPG11) also produce clinical similar phenotypes in that they presented with rapidly progressive parkinsonism, initially responsive to Levodopa treatment but later, developed additional features including cognitive decline and loss of Levodopa responsiveness. Here, using homozygosity mapping and sequence analysis in families with complex parkinsonisms, we identified genetic defects in the ATP13A2 (1 family), PLA2G6 (1 family) FBXO7 (2 families), and SPG11 (1 family). The genetic heterogeneity was surprising given their initially common clinical features. On careful review, we found the FBXO7 cases to have a phenotype more similar to PRKN gene associated parkinsonism. The ATP13A2 and PLA2G6 cases were more seriously disabled with additional swallowing problems, dystonic features, severe in some, and usually pyramidal involvement including pyramidal weakness. These data suggest that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido- pyramidal syndrome. (C) 2010 Movement Disorder Societ