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Background: Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and classification of affected body regions varies among clinicians., Objective: To delineate the clinical features used by movement disorder specialists in the diagnosis and classification of blepharospasm according to body regions affected, and to develop recommendations for a more consistent approach., Methods: Cross-sectional data for subjects diagnosed with all types of isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data were evaluated to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal., Results: Among all 3222 participants with isolated dystonia, 210 (6.5%) had a diagnosis of focal blepharospasm. Among these 210 participants, 34 (16.2%) had dystonia outside of upper face region. Factors such as dystonia severity across different body regions and number of body regions affected influenced the classification of blepharospasm as focal, segmental, or multifocal., Conclusions: Although focal blepharospasm is the second most common type of dystonia, a high percentage of individuals given this diagnosis had dystonia outside of the eye/upper face region. These findings are not consistent with existing guidelines for the diagnosis and classification of focal blepharospasm, and point to the need for more specific guidelines for more consistent application of existing recommendations for diagnosis and classification., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Objective: The aim of this study was to investigate the relationship between suicidal ideation and neurological, psychological, and psychiatric features in patients with blepharospasm (BSP)., Methods: We enrolled 70 BSP patients and 80 control subjects. All participants underwent a psychiatric and psychometric evaluation: Structured Clinical Interview, Clinical Global Impression, Hamilton Anxiety Rating Scale, Hamilton Depression Rating Scale, Columbia-Suicide Severity Rating Scale, Beck Hopelessness Scale, Temperament Evaluation of Memphis, Pisa, San Diego Auto-questionnaire. BSP severity was assessed using the Blepharospasm Severity Rating Scale., Results: Suicidal ideation was reported in 18% of BSP patients and 6% had current suicidal ideation. 83% of BSP patients had severe hopelessness. BSP patients presented an increased sense of hopelessness (OR= 1.39, 95% CI = 1.13/1.70) and a pronounced depressive temperament (OR= 1.36, 95% CI = 1.12/1.65). Suicidal ideation in BSP patients correlated with psychiatric disorders (OR = 3.96, 95% CI = 1.23/12.74) and higher scores on the HAM-A (OR = 1.11, 95% CI = 1.02/1.20), HAM-D (OR = 1.18, 95% CI = 1.05/1.32), CGI (OR = 1.85, 95% CI = 1.18/2.90), TEMPS-A Cyclothymia (OR = 1.16, 95% CI = 1.02/1.31)., Conclusion: Our findings suggest the presence of suicidal ideation and severe hopelessness in BSP patients.KEY POINTSBSP patients as compared to controls more frequently reported the presence of a psychiatric disorder and more severe anxiety and depressive symptoms, psychopathology on the CGI, suicidal ideation, and hopelessness.BSP patients with prevalent cyclothymic temperament had more severe suicidal ideation, suggesting an increased suicide risk most likely due to difficulties in psychological adaptation to changing environments, including the neurological disease.A psychiatric assessment is recommended for patients with this condition, with possible referral to a suicide prevention centre.

(1) Background: In dystonia, the somatosensory temporal discrimination threshold (STDT) is abnormally increased at rest and higher and longer-lasting during movement execution in comparison with healthy subjects (HS), suggesting an abnormal sensorimotor integration. These abnormalities are thought to depend on abnormal proprioceptive input coming from dystonic muscles. Since Botulinum toxin-A (BT-A) reduces proprioceptive input in the injected muscles, our study investigated the effects of BT-A on STDT tested at rest and during voluntary movement execution in patients with focal dystonia. (2) Methods: We enrolled 35 patients with focal dystonia: 14 patients with cervical dystonia (CD), 11 patients with blepharospasm (BSP), and 10 patients with focal hand dystonia (FHD); and 12 age-matched HS. STDT tested by delivering paired stimuli was measured in all subjects at rest and during index finger abductions. (3) Results: Patients with dystonia had higher STDT values at rest and during movement execution than HS. While BT-A did not modify STDT at rest, it reduced the abnormal values of STDT during movement in CD and FHD patients, but not in BSP patients. (4) Conclusions: BT-A improved abnormal sensorimotor integration in CD and FHD, most likely by decreasing the overflow of proprioceptive signaling from muscle dystonic activity to the thalamus.

Introduction: Patients with blepharospasm in addition to involuntary contraction of the orbicularis oculi muscle also have non-motor symptoms (psychiatric, sleep, cognitive, and ocular). In this paper, we investigated the relationship of non-motor with motor symptoms and the total burden of non-motor symptoms in patients with blepharospasm. Results were compared with those of age- and sex-matched healthy controls., Methods: We enrolled 60 patients with blepharospasm and 40 age-matched healthy controls. In all patients, the severity of blepharospasm was assessed clinically with the Blepharospasm Severity Rating Scale. All the participants underwent a psychiatric, sleep, cognitive, and ocular symptom evaluation. We investigated the correlations between motor, non-motor symptoms, and patients' clinical and demographic features., Results: The frequency of psychiatric, sleep, and cognitive disorders and ocular symptoms was higher in blepharospasm patients than in healthy controls. Non-motor symptoms coexisted in the majority of patients and there was no correlation between non-motor and motor symptoms. The total burden of non-motor symptoms did not associate with motor symptoms and demographic features in blepharospasm., Conclusions: Non-motor symptoms are independent of motor features and likely belong to the clinical spectrum of blepharospasm. The presence of non-motor symptoms possibly reflects a complex network disorder of blepharospasm.

The aim of the study was to evaluate the effects of writing, reading, and speaking on orbiculari oculi (OO) muscle spasms and on the blink rate in patients with blepharospasm (BSP). Patients with hemifacial spasm (HFS) and healthy subjects (HS) acted as control subjects. Thirty patients with BSP, 20 patients with primary HFS and 20 age-matched healthy subjects were videotaped according to a standardized procedure: at rest with eyes open; while writing a standard sentence on paper; while writing a standard sentence on a blackboard keeping the head straight; during a conversation based on a simple topic (speaking task); and while reading a standard text aloud. Two independent movement disorders specialists reviewed the videotapes and measured the number of OO spasms and blinks in each segment. Writing and reading reduced the number of OO spasms in BSP patients, whereas speaking did not. On the other hand, writing, reading, and speaking did not modify spasms in HFS patients. These tasks modulated the blink rate in all the three groups of subjects (BSP, HFS, and HS). Our hypothesis is that the modulation of OO spasm in BSP during writing and reading depends on influences coming from occipital areas onto the brainstem circuits. Whether cognitive training with reading and writing may be used to improve OO muscle spasms is an issue that warrants further investigation.

Dystonia is thought to be a network disorder due to abnormalities in the basal ganglia-thalamo-cortical circuit. We aimed to investigate the white matter (WM) microstructural damage of bundles connecting pre-defined subcortical and cortical regions in cervical dystonia (CD) and blepharospasm (BSP). Thirty-five patients (17 with CD and 18 with BSP) and 17 healthy subjects underwent MRI, including diffusion tensor imaging (DTI). Probabilistic tractography (BedpostX) was performed to reconstruct WM tracts connecting the globus pallidus, putamen and thalamus with the primary motor, primary sensory and supplementary motor cortices. WM tract integrity was evaluated by deriving their DTI metrics. Significant differences in mean, radial and axial diffusivity between CD and HS and between BSP and HS were found in the majority of the reconstructed WM tracts, while no differences were found between the two groups of patients. The observation of abnormalities in DTI metrics of specific WM tracts suggests a diffuse and extensive loss of WM integrity as a common feature of CD and BSP, aligning with the increasing evidence of microstructural damage of several brain regions belonging to specific circuits, such as the basal ganglia-thalamo-cortical circuit, which likely reflects a common pathophysiological mechanism of focal dystonia. [ABSTRACT FROM AUTHOR]

Background: Patients with cervical dystonia (CD) show impaired postural control, balance, and gait, likely due to abnormal head postures and sensorimotor disturbances. However, until now no study has investigated whether attention-demanding activity worsens postural control and balance in CD patients. Objective: To investigate whether patients with CD show cognitive-motor interference (CMI), a specific kind of dual-task interference that occurs during the simultaneous execution of a cognitive and motor task. This information may be useful to determine whether performing activities of daily living worsens postural control and balance in CD patients. Methods: We performed a pilot case-control study. Twenty-two patients affected by CD and 19 healthy controls were enrolled in order to test CMI. Each subject was evaluated during the execution of a cognitive task while postural stability was assessed through a stabilometric platform. Results: CD patients showed impaired postural control compared to healthy controls, with instability increasing with increasing cognitive task complexity. No relationships were found between stabilometric parameters and clinical characteristics of CD. Conclusions: Our hypothesis is that CMI in CD patients derives from deranged network connectivity when activated simultaneously during the performance of two tasks that interfere with each other and "compete" for the same resources within the cognitive system. [ABSTRACT FROM AUTHOR]

Although acquired dystonia may develop following ischaemic/haemorrhagic stroke, the relationship between cerebrovascular disease and idiopathic dystonia has been poorly investigated. This cross sectional study aimed at evaluating the impact of cerebrovascular risk factors on the clinical expression of idiopathic adult onset dystonia (IAOD), with reference to dystonia localization and dystonia-associated features. Data were obtained from the Italian Dystonia Registry. Patients with IAOD were stratified into two groups according to the presence of diabetes mellitus and/or arterial hypertension and/or dyslipidemia and/or heart disease. The two groups were compared for demographic features, dystonia phenotype, and dystonia-associated features (sensory trick, tremor, eye symptoms in blepharospasm, and neck pain in cervical dystonia). A total of 1108 patients participated into the study. Patients who reported one cerebrovascular factor or more (n = 555) had higher age and longer disease duration than patients who did not. On multivariable logistic regression analysis, blepharospasm was the only localization, and sensory trick was the only dystonia-associated feature that was significantly associated with cerebrovascular risk factors. Linear regression analysis showed that the strength of the association between cerebrovascular factors and blepharospasm/sensory trick increased with increasing the number of cerebrovascular factors per patient. Results of the present study showed that cerebrovascular risk factors may be associated with specific features of IAOD that is development of blepharospasm and sensory trick. Further studies are needed to better understand the meaning and the mechanisms underlying this association. • We assessed the impact of vascular risk factors (VRFs) on idiopathic dystonia. • VRFs may be associated with specific phenotypes of idiopathic dystonia. • This may suggest that VRFs-related lesions changes impact on idiopathic dystonia. [ABSTRACT FROM AUTHOR]

Background. The somatosensory temporal discrimination threshold (STDT) is defined as the shortest interval at which an individual recognizes two stimuli as asynchronous. Some evidence suggests that STDT depends on cortical inhibitory interneurons in the basal ganglia and in primary somatosensory cortex. Several studies have reported that the STDT in patients with dystonia is abnormal. No longitudinal studies have yet investigated whether STDT values in different forms of focal dystonia change during the course of the disease. Methods. We designed a follow-up study on 25 patients with dystonia (15 with blepharospasm and 10 with cervical dystonia) who were tested twice: upon enrolment and 8 years later. STDT values from dystonic patients at the baseline were also compared with those from a group of 30 age-matched healthy subjects. Results. Our findings show that the abnormally high STDT values observed in patients with focal dystonia remained unchanged at the 8-year follow-up assessment whereas disease severity worsened. Conclusions. Our observation that STDT abnormalities in dystonia remain unmodified during the course of the disease suggests that the altered activity of inhibitory interneurons—either at cortical or at subcortical level—responsible for the increased STDT does not deteriorate as the disease progresses. [ABSTRACT FROM AUTHOR]