Showing papers by "Giovanni Fabbrini published in 2015"

Is tremor in dystonia a phenotypic feature of dystonia

Abstract: To understand better the features and mechanisms distinguishing tremor in dystonia, we reviewed the epidemiologic, clinical, and neurophysiologic data in patients with dystonia and tremor. Clinical studies suggest that tremor starts at or after dystonia onset in body parts affected or unaffected by dystonia. Tremor in dystonia manifests during posture or voluntary movements even though some dystonic patients may have tremor at rest. Prevalence rates for tremor in dystonia are higher in patients with adult-onset dystonia and cervical dystonia than in other dystonias and highest in patients in whom dystonia spreads. Neurophysiologic investigations in patients with dystonia and tremor show reduced reciprocal inhibition between agonist and antagonist upper limb muscles, a lack of brainstem interneuronal inhibition, and abnormal sensory integration. The neurophysiologic abnormalities in patients with dystonia and tremor resemble those in dystonia but differ from those described in essential tremor. Tremor is a phenotypic motor feature in dystonia.

Cognitive Behavioral Therapy in Movement Disorders: A Review

Abstract: In addition to motor symptoms, patients with movement disorders often complain of psychiatric disturbances, including mood, anxiety, and impulse-control disorders and psychosis. These abnormalities are often misdiagnosed and left untreated, thus resulting in a worse prognosis and lower quality of life. Besides the use of standard pharmacological treatments, psychiatric abnormalities can be treated by means of nonpharmacological approaches. These approaches include various types of psychological therapies, the most widely used being cognitive behavioral therapy (CBT). We reviewed all articles, conducted until 2014, that contained primary data derived from clinical trials and case reports on the effect of CBT in the most common movement disorders. One randomized, controlled study and several uncontrolled studies on the efficacy of CBT in Parkinson's disease (PD) have shown a short-term benefit of depression and anxiety. In Tourette's syndrome (TS), CBT has been assessed in a number of large controlled clinical trials that have demonstrated an improvement in psychiatric disturbances and tics. There are no controlled studies on the efficacy of CBT in other types of movement disorders, such as dystonia, Huntington's disease, and essential tremor. Only a limited number of studies have evaluated the efficacy of CBT in the management of psychiatric disorders in movement disorders. The evidence available suggests that CBT is useful in TS and probably useful in PD. We recommend the planning of randomized, controlled clinical trials to investigate the effects of CBT and group CBT in the treatment of psychiatric disturbances in movement disorders.

Pisa syndrome in Parkinson disease: An observational multicenter Italian study.

Abstract: Objective: To estimate the prevalence of Pisa syndrome (PS) in patients with Parkinson disease (PD) and to assess the association between PS and demographic and clinical variables. Methods: In this multicenter cross-sectional study, consecutive outpatients with PD attending 21 movement disorders Italian tertiary centers were enrolled and underwent standardized clinical evaluation. PS was defined as trunk lateral deviation ≥10°. Patients with PD were compared according to the presence of PS for several demographic and clinical variables. Results: Among 1,631 enrolled patients with PD, PS was detected in 143 patients (8.8%, 95% confidence interval 7.4%–10.3%). Patients with PS were older, had lower body mass index, longer disease duration, higher disease stages, and poorer quality of life. Falls were more frequent in the PS group as well as occurrence of “veering gait” (i.e., the progressive deviation toward one side when patient walked forward and backward with eyes closed). Patients with PS received higher daily levodopa equivalent daily dose and were more likely to be treated with combination of levodopa and dopamine agonists. Osteoporosis and arthrosis were significantly the most frequent associated medical conditions in patients with PS. Multiple explanatory variable logistic regression models confirmed the association of PS with the following variables: Hoehn and Yahr stage, ongoing combined treatment with levodopa and dopamine agonist, associated medical conditions, and presence of veering gait. Conclusions: Our results suggest that PS is a relatively frequent and often disabling complication in PD, especially in the advanced disease stages. The association is dependent on a number of potentially relevant demographic and clinical variables.

Development and validation of a clinical scale for rating the severity of Blepharospasm

Abstract: Existing scales for rating the severity of blepharospasm (BSP) are limited by a number of potential drawbacks. We therefore developed and validated a novel scale for rating the severity of BSP. The development of the scale started with careful examination of the clinical spectrum of the condition by a panel of experts who selected phenomenological aspects thought to be relevant to disease severity. Thereafter, selected items were first checked for reliability, then reliable items were combined to generate the scale, and clinimetric properties of the scale were evaluated. Finally, the confidence with which the scale could be used by people without high levels of movement disorders skill was assessed. The new scale, based on objective criteria, yielded moderate to almost perfect reliability, acceptable internal consistency, satisfactory scaling assumptions, lack of floor and ceiling effects, partial correlations with a prior severity scale and with a quality of life scale, and good sensitivity to change. Despite a few limitations, the foregoing features make the novel scale more suitable than existing scales to assess the severity of BSP in natural history and pathophysiologic studies as well as in clinical trials.

Clinical course of psychiatric disorders in patients with cervical dystonia

Abstract: We assessed the course of psychiatric disorders in 23 cervical dystonia patients by using the structured clinical interview for DSM-IV and different rating scales. Patients were studied on two occasions 5 years apart. There were no differences in psychiatric disorders and severity of psychiatric symptoms between the two evaluations, whereas the severity of dystonia was milder at the second evaluation. Psychiatric symptoms likely represent a primary disorder in cervical dystonia patients.

Cerebellar Continuous Theta Burst Stimulation in Essential Tremor

Abstract: The pathophysiological mechanisms of essential tremor (ET) are still not entirely clear. In the present study, we aimed to investigate the cerebello-thalamo-cortical connectivity in ET using the cerebellar continuous theta burst stimulation (cTBS) and possible effects on tremor and reaching movements. Sixteen patients with ET and 11 healthy subjects underwent two experimental sessions: (i) cTBS over the right cerebellar hemisphere (real cerebellar cTBS) and (ii) cTBS over the neck muscles (sham cerebellar cTBS). The two sessions were performed at least 1 week apart. The effects of real and sham cerebellar cTBS were quantified as excitability changes on contralateral primary motor cortex, as well as possible changes of postural tremor and reaching movements on the ipsilateral arm. Primary motor cortex excitability was assessed by recording the input/output curve of the motor-evoked potentials from the right first dorsal interosseous muscle. Tremor was rated clinically. Objective assessment of tremor and reaching movements was performed using kinematic techniques. Real cerebellar cTBS reduced the excitability in the contralateral primary motor cortex in healthy subjects though not in patients with ET. There was no significant change in tremor severity and reaching movements, as assessed by clinical examination or kinematic techniques, after real or sham cerebellar cTBS in patients with ET. Finally, there was no correlation between individual changes of M1 excitability and kinematic measures of tremor and reaching movement abnormalities in patients with ET. The results suggest that functional cerebello-thalamo-cortical connectivity tested by cTBS is abnormal in ET and that cerebellar cTBS does not ameliorate tremor in this condition.

Somatosensory temporal discrimination in essential tremor and isolated head and voice tremors

Abstract: The aim of this study was to investigate the somatosensory temporal discrimination threshold in patients with essential tremor (sporadic and familial) and to evaluate whether somatosensory temporal discrimination threshold values differ depending on the body parts involved by tremor. We also investigated the somatosensory temporal discrimination in patients with isolated voice tremor. We enrolled 61 patients with tremor: 48 patients with essential tremor (31 patients with upper limb tremor alone, nine patients with head tremor alone, and eight patients with upper limb plus head tremor; 22 patients with familial vs. 26 sporadic essential tremor), 13 patients with isolated voice tremor, and 45 healthy subjects. Somatosensory temporal discrimination threshold values were normal in patients with familial essential tremor, whereas they were higher in patients with sporadic essential tremor. When we classified patients according to tremor distribution, somatosensory temporal discrimination threshold values were normal in patients with upper limb tremor and abnormal only in patients with isolated head tremor. Temporal discrimination threshold values were also abnormal in patients with isolated voice tremor. Somatosensory temporal discrimination processing is normal in patients with familial as well as in patients with sporadic essential tremor involving the upper limbs. By contrast, somatosensory temporal discrimination is altered in patients with isolated head tremor and voice tremor. This study with somatosensory temporal discrimination suggests that isolated head and voice tremors might possibly be considered as separate clinical entities from essential tremor.

Botulinum toxin and blink rate in patients with blepharospasm and increased blinking.

Abstract: Objective The aim of the study was to investigate the effect of botulinum toxin (BoNT) on blink rate (BR) in patients with blepharospasm (BSP) and increased blinking (IB). Methods 37 patients with a clinical diagnosis of primary BSP (19 patients had tonic orbicularis oculi (OO) spasms and 18 patients had clonic OO spasms) and 8 patients with IB were included in this case-control study. All subjects underwent a standardised video protocol and clinical evaluation with a validated questionnaire designed to identify eye symptoms and Blepharospasm Disability Index (BSDI) before and 1 month after BoNT injection. BR was measured from the video recording before and after BoNT. BR in BSP and IB patients was compared with that from a group of healthy subjects and from a group of patients with hemifacial spasm (HFS). BR in HFS was also measured before and after BoNT. Results BR was increased in patients with IB and in BSP patients with clonic spasms but not in BSP patients with tonic spasms. BoNT reduced BR in patients with IB and in patients with clonic spasms, but not in patients with tonic spasms. BoNT left BR in patients with HFS unchanged. Changes in BR after BoNT were also independent of the presence of ocular symptoms. Despite the differential response of BR, BoNT significantly reduced BSDI in patients with BSP and IB. Conclusions BoNT differentially modulates BR in patients with BSP and IB depending on the baseline BR. BoNT injection reduces BR only when the blink generator is overactive, possibly influencing tear film retention.

CBT Group Intervention for Depression, Anxiety, and Motor Symptoms in Parkinson's Disease: Preliminary Findings

Abstract: Nonpharmacological therapies, like cognitive behavioral therapy (CBT), for the treatment of non-motor symptoms (NMS) in Parkinson's disease (PD) have received only little attention. Promising results derive from a few studies that examined the efficacy of individual CBT for depression and anxiety in Parkinson's disease. To date no trial has evaluated the utility of CBT group for NMS in Parkinson's disease. The aim of the present preliminary study was to observe whether CBT group therapy is useful for both NMS and motor symptoms (MS) in patients affected by Parkinson's disease. The results suggested that CBT group was effective in treating depression and anxiety symptoms and can reduce the severity of MS in patients suffering from PD.

Spread of Muscle Spasms in Hemifacial Spasm.

Abstract: Hemifacial spasm (HFS) is a clinical condition characterized by involuntary contractions in facial muscles. The aim of the study was to investigate, systematically in 178 patients with HFS, the frequency of spread from the site of origin to other facial muscles. Patients enrolled underwent a complete neurological examination and a face-to-face interview. Spread of the spasm to other facial muscles was considered to be present in those patients whose spasms onset in a single site and involved both upper and lower facial muscles at the time of examination. We also collected information about gender, age, age at HFS onset, symptom duration, muscles involved by the spasm at the time of onset, and spread of spasm to other facial muscles. Spread of spasms to the other facial muscles of the same side of the face was present in 93.4% of patients with HFS, and latency of spread was related to disease duration and age at onset. In patients with HFS, spread of muscle spasms represents the natural history of HFS.

Clinical variables associated with treatment changes in Parkinson’s disease: results from the longitudinal phase of the REASON study

Abstract: To assess over a period of 9 months in a sample of Italian Parkinson’s disease (PD) patients reasons leading the neurologist to modify dopaminergic treatment and patients’ causes of dissatisfaction with ongoing therapy. To evaluate the influence of disease severity on therapy persistence. A disease severity balanced sample of PD patients with stable anti-parkinsonian drugs (APD) treatment was enrolled and evaluated every 3 months. Patients requiring APD treatment modifications were discontinued from the study. The probability to modify APD treatment is greater for higher motor (UPDRS scores) and non-motor symptoms (NMSS score) severity. Both from neurologist’s and patient’s perspective, motor symptoms were the main determinants underlying APD treatment modifications. Non-motor symptoms were cause of dissatisfaction with ongoing APD treatment for 52 % of the patients, while only 36 % of the neurologists considered these as valid reasons for therapy change. REASON is the first study in PD patients that prospectively examined reasons driving APD treatment changes. Results show that the disease severity significantly increases the probability of APD treatment change. Patients attribute greater relevance than neurologists to non-motor symptoms as reason requiring treatment changes. This confirms that patient and neurologist perceptions only partially overlap.