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Purpose: To investigate the effect of botulinum toxin-A (BTX-A) treatment on corneal topography, ocular biometry and keratometry in patients with benign essential blepharospasm (BEB) and hemifacial spasm (HFS)., Methods: This study comprised 66 eyes of 33 patients with BEB and 5 eyes of 5 patients with HFS who underwent BTX-A injections consecutively. Refractive error values, tear break-up time (TBUT), corneal topography [corneal power of flat axis (K1) and steep axis (K2), mean corneal power (Km), corneal astigmatism (K2-K1)] and ocular optical biometry [axial length (AL), anterior chamber depth (ACD)] were recorded before BTX-A treatment and 1 month after BTX-A treatment. The researchers calculated the expected emmetropic intraocular lens power (emm-IOL) using the SRK-T, Holladay, Hoffer-Q and Haigis formulas at each examination., Results: K1 (43.48 ± 2.02 vs. 43.57 ± 2.08, p = 0.036), Km (43.91 ± 1.99 vs. 43.99 ± 2.06, p = 0.024) and ACD (3.22 (2.77-3.76) vs. 3.41 (2.99-4.02), p < 0.001) values were found to be significantly higher. The expected emm-IOL according to the SRK-T (21.04 ± 1.6 vs. 20.93 ± 1.6, p = 0.048), Holladay (21.05 ± 1.6 vs. 20.91 ± 1.62, p = 0.037) and Hoffer-Q (21.08 ± 1.65 vs. 20.94 ± 1.68, p = 0.038) decreased significantly. The expected emm-IOL according to the Haigis formula slightly decreased, but it was not significant (p = 0.386). Additionally, TBUT was found to be significantly lower (p < 0.001) after BTX-A injection. Other parameters were not statistically significant (p > 0.05)., Conclusions: Our study is the first in the literature to compare optic biometry data and intraocular lens power calculation formulas before and after BTX-A injection in eyes with BEB and HFS. BTX-A injection could play an important role in changing the keratometric and ACD values. It should be considered that IOL power calculations that might be unpredictable due to blepharospasm, so repeated measurements and especially measurements after releasing the spasm with BTX-A injections, are necessary in BEB and HFS., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

This report details a rare case where a patient simultaneously suffered from Sjogren's syndrome (SS) and Meige's syndrome (MS). SS, an autoimmune disorder, and MS, a rare neurological condition characterized by involuntary eyelid closure, presented in a 73-year-old male. The patient had been experiencing dry eye symptoms for the past 5 years, with the onset of eyelid spasms and tetanic eye closure occurring 3 years ago. Traditional treatments, including subthalamic nucleus deep brain stimulation, provided only temporary relief. Diagnostic evaluations, including blood tests and imaging, confirmed SS and MS coexistence. Treatment involved a combination of steroids, immunosuppressants, and immunoglobulin, leading to significant symptom relief. This case suggests a potential association between SS and the development of MS, highlighting the importance of immunomodulatory therapy in managing neurological symptoms. Further research is needed to explore the relationship between these two conditions and to develop more effective treatment strategies., Competing Interests: Declaration of Competing Interest None, (Copyright © 2023 Elsevier B.V. All rights reserved.)

Purpose: To evaluate the relations between nonmotor manifestations (dry eye, mood disorders, and sleep disturbance) and motor disorders in patients with benign essential blepharospasm (BEB), and to determine whether relieving motor disorders by botulinum neurotoxin can improve the nonmotor manifestations., Methods: In this prospective case series study, 123 BEB patients were enrolled for evaluations. Among them, 28 patients underwent botulinum neurotoxin therapy and attended another two postoperative visits at 1 month and 3 months. Motor severity was measured with Jankovic Rating Scale (JRS) and Blepharospasm Disability Index (BSDI). We assessed dry eye using OSDI questionnaire, Schirmer test, tear break-up time (TBUT), tear meniscus height, lipid layer thickness (LLT) and corneal fluorescence staining. Zung's Self-rating Anxiety and Depression Scale (SAS, SDS) and Pittsburgh Sleep Quality Index (PSQI) were for mood status and sleep quality evaluations., Results: Patients with dry eye or mood disorders had higher JRS scores (5.78 ± 1.13, 5.97 ± 1.30) than those without (5.12 ± 1.40, 5.50 ± 1.16; P = 0.039, 0.019, respectively). BSDI values of patients with sleep disturbance (14.61 ± 4.71) was higher than those without (11.89 ± 5.44, P = 0.006). Correlations were found between JRS, BSDI and SAS, SDS, PSQI, OSDI, TBUT. Botulinum neurotoxin effectively relieved JRS, BSDI and improved PSQI, OSDI, TBUT, LLT (8.11 ± 5.81, 21.77 ± 15.76, 5.04 ± 2.15 s, 79.61 ± 24.11 nm) at the 1-month visit compared to baseline (9.75 ± 5.60, 33.58 ± 13.27, 4.14 ± 2.21 s, 62.33 ± 22.01 nm; P = 0.006, < 0.001, = 0.027, < 0.001, respectively)., Conclusions: The BEB patients with dry eye, mood disorders, or sleep disturbance had more severe motor disorders. Motor severity was associated with the severity of the nonmotor manifestations. Relieving motor disorders by botulinum neurotoxin was effective in improving dry eye and sleep disturbance., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Eyelid spasms might be associated with elevated intraocular pressure (IOP) in hemifacial spasm (HFS) patients. IOP assessment using a Goldmann applanation tonometer (GAT) is often compromised by eyelid spasms. This study aimed to assess the effect of HFS on IOP measurements using the transpalpebral tonometer Diaton® before and after treatment with botulinum toxin type A (BTX-A) and compared Diaton® and GAT measurements after treatment with BTX-A., Methods: IOP measurements were obtained with Diaton® in 27 patients with moderate-to-severe HFS before and after treatment with BTX-A. After treatment, the IOP was also measured using GAT and the results were compared with the ones measured with a Diaton®. The patients underwent automated perimetry, OCT, and pachymetry for screening to glaucoma., Results: Mean IOP with Diaton® was 11 ± 3.42 mmHg before treatment in the affected eye and 9 ± 2.98 mmHg in the contralateral eye. This difference was statistically significant (P = 0.012). However, after treatment with BTX-A, no interocular difference was found in IOP obtained with Diaton® (P = 0.204) or GAT (P = 0.971). Comparison between GAT and Diaton® measurements showed no significant differences after BTX-A treatment between the affected (P = 0.212) and contralateral eye (P = 0.971)., Conclusions: A significant reduction in IOP measurements on the affected side of HFS patients was observed after treatment with BTX-A, demonstrating that eyelid spasms may increase the IOP. No significant difference was observed between Diaton® and GAT measurements after the application of BTX-A. No differences were found in automated perimetry, OCT, and CCT when comparing affected eyes with contralateral eyes., (© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)

Purpose: Information is scarce regarding the comprehensive profile of patients with essential blepharospasm and hemifacial spasm in Brazil. The present study aimed to assess the clinical features of patients with these conditions, followed up in two reference centers in Brazil., Methods: The study included patients with essential blepharospasm and hemifacial spasm, followed up at the Departments of Ophthalmology at Universidade Federal de São Paulo and Universidade de São Paulo. Apart from demographic and clinical features, past stressful events related to the first symptoms (triggering event), aggravating factors, sensory tricks, and other ameliorating factors for the eyelid spasms were assessed., Results: A total of 102 patients were included in this study. Most patients were female (67.7%). Essential blepharospasm was the most frequent movement disorder [51/102 patients (50%)], followed by hemifacial spasm (45%) and Meige's syndrome (5%). In 63.5% of the patients, the onset of the disorder was associated with a past stressful event. Ameliorating factors were reported by 76.5% of patients; 47% of patients reported sensory tricks. In addition, 87% of the patients reported the presence of an aggravating factor for the spasms; stress (51%) was the most frequent., Conclusion: Our study provides information regarding the clinical features of patients treated in the two largest ophthalmology reference centers in Brazil.

Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region.

Smart eyeglasses with an integrated electrooculogram (EOG) device (JINS MEME ES&#95;R ® , JINS Inc.) were evaluated as a quantitative diagnostic tool for blepharospasm. Participants without blepharospasm (n = 21) and patients with blepharospasm (n = 19) undertook two voluntary blinking tests (light and fast) while wearing the smart eyeglasses. Vertical (Vv) and horizontal (Vh) components were extracted from time-series voltage waveforms recorded during 30 s of the blinking tests. Two parameters, the ratio between the maximum and minimum values in the power spectrum (peak-bottom ratio, Fourier transform analysis) and the mean amplitude of the EOG waveform (peak amplitude analysis) were calculated. The mean amplitude of Vh from light and fast blinking was significantly higher in the blepharospasm group than in the control group (P  < 0.05 and P  < 0.05). Similarly, the peak-bottom ratio of Vv from light and fast blinking was significantly lower in the blepharospasm group than in the control group (P  < 0.05 and P  < 0.05). The mean amplitude of Vh and peak-bottom ratio of Vv correlated with the scores determined using the Jankovic rating scale (P  < 0.05 and P  < 0.01). Therefore, these parameters are sufficiently accurate for objective blepharospasm classification and diagnosis., (© 2023. The Author(s).)

Purpose: Apraxia of eyelid opening (AEO) has been defined by the presence of an intermittent nonparalytic bilateral loss of the volitional ability to open the eyes or to maintain the eyelids in a sustained elevated position. It is not known whether the condition represents an apraxia, a dystonia, or a freezing phenomenon, and several different nomenclatorial terms have been suggested for this condition including the so-called AEO (scAEO), blepahrocolysis, focal eyelid dystonia, and so on. The primary goal of this review is to attempt to clarify the pathogenetic mechanisms underlying scAEO as a clinical phenomenon. This review also addresses the issue of whether scAEO is part of the spectrum of blepharospasm (BSP) which includes BSP, dystonic blinks and other dystonic eyelid conditions, or whether it is a separate phenomenologically heterogeneous disease with clinical features that merely overlap with BSP., Methods: A literature review was conducted in PubMed, MEDLINE, PubMed Central (PMC), NCBI Bookshelf, and Embase for several related keywords including the terms "apraxia of eyelid opening," "pretarsal blepharospasm," "blepharocolysis," "eyelid freezing," "eyelid akinesia," "levator inhibition," "blepharospasm-plus," as well as "blepharospasm." The clinical findings in patients with scAEO who fulfilled the classic diagnostic criteria of the disease that were originally set by Lepore and Duvoisin were included, while patients with isolated blepharospasm or dystonic blinks (DB) were excluded. In addition, electromyographic (EMG) studies in patients with scAEO were reviewed in detail with special emphasis on studies that performed synchronous EMG recordings both from the levator muscle (LPS) and the pretarsal orbicularis oculi muscle (OO)., Results: The apraxia designation is clearly a misnomer. Although scAEO behaves clinically as a hypotonic freezing phenomenon, it also shares several cardinal features with focal dystonias. The authors broadly categorized the EMG data into 3 different patterns. The first pattern (n = 26/94 [27.6%]) was predominantly associated with involuntary discharges in the OO muscle and has been termed pretarsal blepharospasm (ptBSP). The commonest pattern was pattern no. 2 (n = 53/94 [56.38%]), which was characterized by involuntary discharges in the OO muscle, together with a disturbed reciprocal innervation of the antagonist levator muscle and is dubbed disturbed reciprocal innervation (DRI). This EMG pattern is difficult to discern from the first pattern. Pattern no. 3 (n = 15/94 [15.9%]) is characterized by an isolated levator palpebrae inhibition (ILPI). This levator silence was observed alone without EMG evidence of contractions in the pretarsal orbicularis or a disturbed reciprocal relation of both muscles., Conclusion: EMG evidence shows that the great majority (84%) of patients show a dystonic pattern, whereas ILPI (16%) does not fit the dystonic spectrum. The authors propose that a spasmodic contraction of the muscle of Riolan may be the etiological basis for levator inhibition in patients with ILPI. If this is true, all the 3 EMG patterns observed in scAEO patients (ptBSP, DRI, and ILPI) would represent an atypical form of BSP. The authors suggest coining the terms Riolan muscle BSP ( rmBSP ) for ILPI, and the term atypical focal eyelid dystonia ( AFED ) instead of the term scAEO, as both terms holistically encompass both the clinical and EMG data and concur with the authors' theorem., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2022 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Several demographic and environmental factors may play an important role in determining the risk of developing adult-onset isolated dystonia (AOID) and/or modifying its course. However, epidemiologic studies have provided to date only partial insight on the disease mechanisms that are actively influenced by these factors. The age-related increase in female predominance in both patients diagnosed with AOID and subjects carrying its putative mediational phenotype suggests sexual dimorphism that has been demonstrated for mechanisms related to blepharospasm and cervical dystonia. The opposite relationship that spread and spontaneous remission of AOID have with age suggests age-related decline of compensatory mechanisms that protect from the progression of AOID. Epidemiological studies focusing on environmental risk factors yielded associations only with specific forms of AOID, even for those factors that are not likely to predispose exclusively to specific focal forms (for example, only writing dystonia was found associated with head trauma, and only blepharospasm with coffee intake). Other factors show biological plausibility of their mechanistic role for specific forms, e.g., dry eye syndrome or sunlight exposure for blepharospasm, scoliosis for cervical dystonia, repetitive writing for writing dystonia. Overall, the relationship between environment and AOID remains complex and incompletely defined. Both hypothesis-driven preclinical studies and well-designed cross-sectional or prospective clinical studies are still necessary to decipher this intricate relationship., (Copyright © 2023. Published by Elsevier Inc.)

Objective: To analyze mental disorders in blepharospasm (BS) before and after botulinum therapy (BT)., Material and Methods: We examined 25 patients with BS (9 men and 16 women), aged 50 to 85 years (mean 64.1±18.5), with BS (main study group). The control group consisted of 20 healthy individuals (7 men and 13 women, mean age 63.5±8.5). Patients were examined before and after BT (after 3 weeks) using a diagnostic structured interview Mini International Neuropsychiatric Interview, GAD-7, PHQ-9, fear of negative assessment (short version) and The Liebowitz Social Anxiety Scale (LSAS)., Results: Fifty-six percent of patients with BS, as assessed by the GAD-7, showed a high level of anxiety, while depression, measured by the PHQ-9 and found in 52% of patients, was mainly manifested by mild disorders. In the group of patients with BS, the mean scores were higher on the GAD-7, PHQ-9, fear of negative assessment ( p <0.001) and LSAS ( p <0.05) than in the control group. After treatment with BT, the levels of anxiety and depression in patients with BS decreased slightly and remained higher compared with the control group. Psychiatric examination in the majority (64%) of patients revealed mental disorders that could not be explained by the occurrence of BS. The remaining 36% of patients had adaptation disorders (nosogenic reactions) caused by BS. Affective mental pathology (recurrent depressive disorder and dysthymia) and anxiety disorders (social phobia and adjustment disorders) were more often observed in the main study group compared with the control group (24% versus 5% and 68% versus 10%, respectively)., Conclusion: A significant proportion of patients with BS have anxiety and depressive disorders, the severity of which does not depend only on the severity of motor symptoms and does not significantly decrease after successful BT, but is caused by mental disorders that preceded the manifestation of BS. Identification of mental disorders to varying degrees associated with BS, not only on the basis of psychometric scales, but also consultation with a psychiatrist, will allow, in addition to the correction of motor symptoms of BS, to differentiate the therapeutic approach through psychotherapy and psychopharmacotherapy.

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.)

Purpose: We aimed to analyze the tears of patients with Benin Essential Blepharospasm (BEB) to explore possible corneo-conjunctival mechanisms for photophobia, tear deficiency and ocular pain., Methods: Using an observational cohort of 42 patients diagnosed with BEB, we performed Schirmer's testing, measurement of tear film pH, tear film protein electrophoresis and conjunctival impression cytology., Results: Schirmer's testing showed dry eye (8.4±9.7mm) with 71.3% eyes having a Schirmer's score<10mm. Surprisingly, the pH was basic (8.4±0.4) and was improved in patients receiving the standard treatment of quarterly botulinum toxin injections (8.32±0.36 for treated patients vs. 8.74±0.53 for untreated patients; P=0.045). Together, tear protein electrophoresis and conjunctival impression cytology showed conjunctival inflammation associated with BEB., Conclusion: For the first time, this study emphasizes corneo-conjunctival mechanisms to explain the photophobia, dry eye and pain in Benign Essential Blepharospasm. While encouraging, complementary studies remain necessary to evaluate the effect of correcting tear film pH and inflammation on the quality of life of blepharospasm patients., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Purpose: To assess the severity of dry eye disease in patients with blepharospasm (BEB) before (control) and after injection of botulinum neurotoxin A (BoNT/A)., Design: Cross-sectional study., Methods: Patients with clinically diagnosed BEB and no known history of dry eye syndrome prior to the onset of the disease, before (controls) or after injection with one of the three available types of BoNT/A: onabotulinumtoxinA (Botox®; Allergan, Irvine, CA, USA), abobotulinumtoxinA (Dysport®; Beaufour Ipsen Pharma SAS, Paris, France) or incobotulinumtoxinA (Xeomin®; Merz Pharma GmbH, Frankfurt, Germany) every 3 months. Tear osmolarity and Schirmer's I-test were measured at the first visit for non-treated BEB patients as controls and 3 months after BoNT/A injection., Results: The study consisted of 101 BEB patients (86 females, 15 males) with a mean age of 67 years (range 30-86 years). Seventeen patients were untreated, 26 treated with onabotulinumtoxinA, 23 treated with abobotulinumtoxinA and 35 treated with incobotulinumtoxinA. Post-injection mean tear osmolarity was not significantly higher among patients treated with onabotulinumtoxinA, abobotulinumtoxinA, or incobotulinumtoxinA (P=0.65, P=0.92, and P=0.15, respectively), compared to controls, remaining less than 308 mosm/mL. Mean Schirmer's I-test results remained under 5mm and did not vary between the four groups., Conclusions: The results clearly demonstrate that reduced tear secretion appears to be present in BEB patients even prior to treatment. This decreased lacrimal secretion was not correlated with hyperosmolarity. Clinicians should proactively treat dry eye syndrome in conjunction with management of the blepharospasm., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Background: There are no widely accepted criteria to aid the physician in diagnosing BSP., Objective: To validate recently proposed diagnostic criteria for blepharospasm in a larger and geographically diverse population and to develop a screening system for blepharospasm., Methods: Video-recordings from 211 blepharospasm patients and 166 healthy/disease controls were examined by 8 raters. Agreement for presence of orbicularis oculi spasms, sensory trick, and increased blinking was measured by k statistics. Inability to voluntarily suppress the spasms was asked by the examiner but not captured in the video. Patients/controls were also requested to fill a self-administered questionnaire addressing relevant blepharospasm clinical aspects. The diagnosis at each site was the gold standard for sensitivity/specificity., Results: All the study items yielded satisfactory inter/intra-observer agreement. Combination of items rather than each item alone reached satisfactory sensitivity/specificity. The combined algorithm started with recognition of spasms followed by sensory trick. In the absence of a sensory trick, including "increased blinking" or "inability to voluntarily suppress the spasms" or both items yielded 88-92% sensitivity and 79-83% specificity. No single question of the questionnaire yielded high sensitivity/specificity. Serial application of the questionnaire to our blepharospasm and control subjects and subsequent clinical examination of subjects screening positive by the validated diagnostic algorithms yielded 78-81% sensitivity and 83-91% specificity., Conclusion: These results support the use of proposed diagnostic criteria in multi-ethnic, multi-center cohorts. We also propose a case-finding procedure to screen blepharospasm in a given population with less effort than would be required by examination of all subjects., (Copyright © 2021. Published by Elsevier Ltd.)

Idiopathic blepharospasm shows a female predominance in prevalence, whether there are sex-related differences in distributions of nonmotor symptoms (NMSs) and predictors of quality of life are unknown. Four hundred and twenty-five patients with idiopathic blepharospasm were consecutively recruited, and underwent assessments including dystonia severity, mood disturbances, sleep disturbances, cognition, ocular symptoms, and quality of life. Frequencies and distributions of NMSs, and predictors of quality of life in female and male patients were investigated. NMSs existed in majority of male (94.0%) and female (95.8%) patients. The frequencies of depression, cognition dysfunction, and poor sleep quality were higher in female patients, while the frequency of excessive daytime sleepiness was higher in male patients. More female (79.5%) patients had multiple NMS domains affected than male (70.1%) patients (p = 0.040). Quality of life was associated with depression, anxiety and motor severity for female patients (adjusted R 2  = 0.367, p < 0.001), while associated with depression, excessive daytime sleepiness and motor severity for male patients (adjusted R 2  = 0.430, p < 0.001). The highly prevalent coexistence of multiple NMSs found in patients with blepharospasm support that blepharospasm is a network disorder. The sex-related differences in the pattern of NMSs and predictors of quality of life may aid the development of tailored management of blepharospasm., (© 2021. The Author(s).)

Blepharospasm is a particularly distressing form of focal dystonia, specifically affecting the eyelids and causing involuntary closing of the eyes or an increased blinking. Despite its frequency, the diagnosis of this condition is often delayed. Diagnostic criteria are mainly clinical, but sometimes further investigations may be necessary as blepharospasm may be included in a complex clinical picture.

A 67-year-old male photographer who used traditional cameras that necessitated monocular focusing developed intermittent blepharospasms, evident only during and shortly after the voluntary contraction of the left eyelids while using the camera, a form of a task-specific blepharospasm. The spasms gradually progressed to involve the entire hemiface resulting in a task-specific hemifacial spasm that eventually evolved into a persistent hemifacial spasm. Our case report highlights the fact that focal dystonia may also develop in the facial muscles following chronic and repetitive muscle contractions, such as those performed by an older photographer who used traditional cameras that necessitated monocular focusing. To our knowledge, hemifacial spasm has not yet been recognized as a form of focal, task-specific dystonia. Moreover, occupational, focal dystonia has not been described in photographers.

Purpose: To localize the brain structures involved in blepharospasm., Materials and Methods: This is a retrospective consecutive series of brain MRI's of patients with secondary blepharospasm whose immediate past medical history included cerebrovascular accident or head trauma., Results: Six patients, including 4 with CVA with ischemic or hemorrhagic lesions of the thalamus and caudate nuclei and 2 with head trauma with contusive sequellae to the tectal plate and frontal cortical and cerebellar atrophy., Conclusion: According to the literature, brain lesions associated with blepharospasm involve mainly the thalamus, head of the caudate nucleus, corpus striatum, globus pallidus, internal capsule, cerebral cortex and cerebellum. This study demonstrates that blepharospasm is associated with a lesion of a complex neural network - cortex-thalamus-globus pallidus-cortex - and does not correspond to a single, unique lesion. This network is connected with ascending and descending sensory-motor pathways and motor nuclei., (Copyright © 2020. Published by Elsevier Masson SAS.)

Purpose: To localize the brain structures involved in blepharospasm., Materials and Methods: This is a retrospective consecutive series of brain MRI's of patients with secondary blepharospasm whose immediate past medical history included cerebrovascular accident or head trauma., Results: Six patients, including 4 with CVA with ischemic or hemorrhagic lesions of the thalamus and caudate nuclei and 2 with head trauma with contusive sequellae to the tectal plate and frontal cortical and cerebellar atrophy., Conclusion: According to the literature, brain lesions associated with blepharospasm involve mainly the thalamus, head of the caudate nucleus, corpus striatum, globus pallidus, internal capsule, cerebral cortex and cerebellum. This study demonstrates that blepharospasm is associated with a lesion of a complex neural network - cortex-thalamus-globus pallidus-cortex - and does not correspond to a single, unique lesion. This network is connected with ascending and descending sensory-motor pathways and motor nuclei., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

Blepharospasm (BL) is characterized by involuntary closures of the eyelids due to spasms of the orbicularis oculi muscle. The gold standard for clinical evaluation of BL involves visual inspection for manual rating scales. This approach is highly subjective and error prone. Unfortunately, there are currently no simple quantitative systems for accurate and objective diagnostics of BL. Here, we introduce a soft, flexible hybrid bioelectronic system that offers highly conformal, gentle lamination on the skin, while enabling wireless, quantitative detection of electrophysiological signals. Computational and experimental studies of soft materials and flexible mechanics provide a set of key fundamental design factors for a low-profile bioelectronic system. The nanomembrane soft electrodes, mounted around the eyes, are capable of accurately measuring clinical symptoms, including the frequency of blinking, the duration of eye closures during spasms, as well as combinations of blinking and spasms. The use of a deep-learning, convolutional neural network, with the bioelectronics offers objective, real-time classification of key pathological features in BL. The wearable bioelectronics outperform the conventional manual clinical rating, as shown by a pilot study with 13 patients. In vivo demonstration of the bioelectronics with these patients indicates the device as an easy-to-use solution for objective quantification of BL.

Purpose: To study whether there is an association between benign essential blepharospasm and Sjögren's syndrome by analyzing the presence of antibodies to extractable nuclear antigens in this population., Methods: Seventy-two patients with benign essential blepharospasm (BEB) were included in this study. We excluded patients with hemifacial spasm or blepharospasm secondary to known corneal pathology. We recorded results of Schirmer I testing as well as levels of anti-SSA/Ro and anti-SSB/La antibodies., Results: Our study included 72 patients (144 eyes), of which 62 (86.1%) were women. The mean age was 74.3±10.73 years. The mean Schirmer I test result was 3.14±4.00mm. Five women (8% of this female population) were found to have positive anti-SSA/Ro and anti-SSB/La antibodies. Their mean age was 65.66±13.24 years, while the mean age of the antibody-negative patients was 75.42±9.27 years. There was no statistically significant difference between the Schirmer I tests of the antibody positive and negative patients., Conclusion: This study demonstrates a possible association between Sjögren's syndrome and benign essential blepharospasm, justifying anti-SSA/Ro and anti-SSB/La testing in these patients., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)

Objective: To describe the clinical and electromyographic characteristics of blepharospasm caused by selective involvement of the pars pretarsalis of the orbicularis oculi muscle., Methods: Clinical assessment and simultaneous electromyographic recordings from levator palpebrae superioris and pars orbitaria and pretarsalis of orbicularis oculi muscles were performed in patients with blepharospasm and primary failure to botulinum toxin injections. Patients with selective abnormal electromyographic activity of the pars pretarsalis of the orbicularis oculi muscle were identified and treated with selective pretarsal injections of botulinum toxin., Results: We found 24 patients with pretarsal blepharospasm confirmed by the electromyographic assessment. All of them were functionally blind. Three clinical-electromyographic patterns were identified: (a) Impairment of eyelid opening; (b) Increased blinking; (c) Spasms of eye closure combined with varying degrees of excessive blinking and impairment of eye-opening. Pretarsal injections of botulinum toxin induced a significant improvement in all patients and 50 % regained normal or near-normal vision. The clinical improvement was sustained after repeated pretarsal injections., Conclusions: Pretarsal blepharospasm can be suspected on clinical grounds and it can be confirmed by electromyographic recordings., Significance: Recognition of this type of blepharospasm is important because of its excellent response to botulinum toxin injections applied into the pretarsal part of the orbicularis oculi muscle., Competing Interests: Declaration of Competing Interest F. Grandas received honoraria for lecturing from Allergan S.A. The other authors: none., (Copyright © 2020 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.)

(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.

Objective: To explore whether patients with blepharospasm (BSP) have abnormal personality traits by the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire., Method: The personality profiles of patients with BSP and its relationship with clinical characteristics were assessed in this research. 46 patients with BSP and 33 age-and-gender matched healthy controls were assessed using the MMPI questionnaire. The scores of three validity scales and ten clinical scales were calculated and compared. Then the relationship between those scales and clinical characteristics of patients with BSP was analyzed in the BSP group., Results: It was found that patients with BSP scored significantly higher than healthy controls on the D, Hy, Pt clinical scales. The peak values of profiles were Hy, D, Hs scale scores. However, there was no statistical relationship between the clinical scales of MMPI and the clinical characteristics of BSP after Bonferroni Correction., Conclusion: The findings indicated that MMPI could be a useful psychometric tool to characterize a specific pattern of the personality of BSP patients and BSP patients may have avoidant and somatization personality characteristics., (Copyright © 2020. Published by Elsevier B.V.)

Purpose: To investigate the characteristics of tear abnormalities with benign essential blepharospasm (BEB) and the effect of botulinum toxin type A (BTX-A) treatment., Study Design: Prospective and clinical study., Methods: Forty eyes of 40 patients (12 men and 28 women, ages 63.5 ±12.9) with BEB and tear abnormalities were enrolled., Results: The average scores for subjective symptoms as evaluated by the visual analog scale (VAS) were 46.3 and Dry Eye-Related Quality-of-Life Score (DEQS) were 63.7. The fluorescein breakup time (FBUT) was 2.7 ± 1.6 sec. Among fluorescein breakup patterns (FBUPs), dimple break, with the corresponding mechanism of decreased wettability was the most frequent, observed in 29 eyes (73%). The NEI score was 0.4 ± 0.7 and the van Bijesterveld score was 0.6 ± 0.8; the Schirmer 1 test value was 13.1 ± 9.4 mm. Eighteen patients received BTX-A treatment, and significant improvement was found in severity of subjective symptoms both on VAS and DEQS as well as for FBUT. The main FBUPs changed from dimple break to random break., Conclusion: Tear abnormalities seen in BEB correspond to short BUT-type dry eye (DE), subclassified into decreased wettability DE in view of FBUPs.

Purpose of Review: Impaired eye movements are frequently seen in ophthalmic and neurologic clinical practice, especially in individuals with movement disorders. Identification of the abnormal movement can aid initial diagnosis and improve understanding of the underlying disease pathophysiology. The present article reviews the ocular motor manifestations and recent research on them in common movement disorders., Recent Findings: Ocular motor manifestations and their pathophysiologic correlates are being defined. In particular, study of eye movements can help clarify the changing clinicopathologic spectrum of atypical parkinsonian disorders. The pathophysiology and natural history of blepharospasm are being elucidated. Recent research focuses on high-resolution imaging and other technological advances to improve the sensitivity of the ocular motility exam. Eye movements are being studied as biomarkers for diagnosis and progression in clinical care and trials., Summary: The current review summarizes ocular motor manifestations in common movement disorders, and presents recent research investigating their cause and treatment.

Objective: To propose guidelines for the diagnosis and treatment of facial dystonia prepared by a group of experts in orbit and oculoplastics from the Iberoamerican Oculoplastic Society., Material and Methods: An interactive discussion between the expert panel and those attending the 6th Iberoamerican Society of Oculoplastics Congress, which took place at the Hospital Nuestra Señora de la Luz in Mexico City on 22 October 2018, providing their personal experience based on evidence for diagnosis and treatment of facial dystonia. Around 200 ophthalmologists specialised in oculoplastics from North, Central and South America, Spain, and Portugal were involved. Discussion was focused on the following themes: pathophysiology, diagnosis, medical management, and surgical management., Conclusions: Facial dystonia diagnosis is clinical; therefore, image studies are rarely needed. The ophthalmologist is generally the first physician to be consulted, and is able to be the treating physician, with the exception of specific cases of hemifacial spasm where management with neurosurgery may be beneficial. Botulinum toxin is the treatment of choice. Treatment with oral neuroleptics and myectomy of the orbicularis oculi muscle are reserved for refractory cases, since these do not have an adequate clinical response as first choice treatments. Persistent use of botulinum toxin does not modify the natural course of the disease., (Copyright © 2019 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Blepharospasm (BSP) is an adult-onset focal dystonia with phenomenologically heterogeneous effects, including, but not limited to, blinks, brief or prolonged spasms, and a narrowing or closure of the eyelids. In spite of the clear and well-known symptomatology, objectively rating the severity of this dystonia is a rather complex task since BSP symptoms are so subtle and hardly perceptible that even expert neurologists can rate the gravity of the pathology differently in the same patients. Software tools have been developed to help clinicians in the rating procedure. Currently, a computerised video-based system is available that is capable of objectively determining the eye closure time, however, it cannot distinguish the typical symptoms of the pathology. In this study, we attempt to take a step forward by proposing a neural network-based software able not only to measure the eye closure, time but also to recognise and count the typical blepharospasm symptoms. The software, after detecting the state of the eyes (open or closed), the movement of specific facial landmarks, and properly implementing artificial neural networks with an optimised topology, can recognise blinking, and brief and prolonged spasms. Comparing the software predictions with the observations of an expert neurologist allowed assessment of the sensitivity and specificity of the proposed software. The levels of sensitivity were high for recognising brief and prolonged spasms but were lower in the case of blinks. The proposed software is an automatic tool capable of making objective 'measurements' of blepharospasm symptoms., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Background and Purpose: The clinical manifestation of dystonic spasms in blepharospasm (BSP) patients may be heterogeneous. Whether the varying phenomenology of eyelid spasms becomes manifest sequentially during the course of the disease or aggregates in separate clusters according to different disease courses is still unclear. For this purpose, the clinical features in BSP patients were evaluated longitudinally over a 5-year period and also the blink reflex recovery cycle was tested in a subgroup of BSP patients., Methods: Sixty BSP patients were videotaped at time 0 and after approximately 5 years of follow-up. Two experts in movement disorders, who were blinded to the video order, reviewed the videotapes and scored the severity of BSP using the Blepharospasm Severity Rating Scale. Changes in the R2 recovery index were also evaluated in 18 patients twice, i.e. upon enrolment and at the follow-up., Results: The severity of BSP worsened significantly over the 5-year follow-up period owing to the appearance or the increased duration and frequency of prolonged spasms. It was also found that the blink reflex recovery cycle worsened at follow-up in comparison with the baseline., Conclusions: This study shows that the disease progression of BSP is characterized by the appearance or worsening of prolonged spasms. Prolonged spasms are accompanied by changes in the excitability of brainstem interneurons. Aging-related effects may exacerbate the pathophysiological mechanisms underlying spasms., (© 2018 EAN.)

Purpose: To analyze the clinical features of benign essential blepharospasm in Korean patients., Methods: Patients diagnosed with benign essential blepharospasm in Kim's Eye Hospital from November 2014 to December 2016 were evaluated using a clinical examination and questionnaire. The questionnaire reviewed personal medical history, demographic factors, risk factors for blepharospasm development, and relieving and aggravating factors., Results: Of the 101 patients enrolled, 78 (77.2%) were women. The mean age was 64.9 years old. Hypertension was the most common medical disorder (42.6%), followed by diabetes mellitus. The majority of the patients were non-smokers (83.2%) and drank less than a cup of a caffeinated beverage a day (30.7%). Fifty-seven percent of patients reported no stressful events immediately prior to symptom development. Fatigue and stress were aggravating factors in more than 55% of patients; rest was the most common relieving factor (35.6%)., Conclusions: Here, we report the clinical features of benign essential blepharospasm in Korean patients for the first time. The results were consistent with previous reports showing that the majority of benign essential blepharospasm patients are women and non-smokers. In contrast to previous reports though, fatigue and stress were aggravating factors, and the most common relieving factor was rest. No stressful events had immediately preceded the development of blepharospasm in 57.4% of patients. This report may aid in treating and counseling patients with benign essential blepharospasm., Competing Interests: No potential conflict of interest relevant to this article was reported., (© 2018 The Korean Ophthalmological Society.)

Background: To investigate changes in corneal elevation, pachymetry, and keratometry in discriminating between normal and blepharospasm eyes, as measured by the Pentacam rotating Scheimpflug camera., Methods: This was a prospective, cross-sectional study. A total of 47 consecutive patients with a range of blepharospasm severity and 40 age- and sex- matched healthy subjects were included, one eye of each subject was randomly chosen for data analysis. Blepharospasm severity was evaluated using the Jankovic scale and categorized as mild, moderate, or severe. Corneal parameters were measured by the Pentacam rotating Scheimpflug camera to derive corneal tomography information. Various parameters regarding keratometry, elevation at the anterior and posterior corneal surface, pachymetric data, final D value, and topometric indices from the Pentacam software were recorded, and the relationship between the blink rate and corneal parameters was analyzed. Intraclass correlation coefficients (ICCs) were assessed to evaluate the repeatability of intraobserver., Results: Increased topographic asymmetry was observed in moderate and severe blepharospasm. Front K1and front Km were significantly higher in cases of mild (P < 0.05), moderate (P < 0.0001), and severe (P < 0.0001) blepharospasm as compared with controls. Front K2, back K1, back K2, and back Km were significantly higher in cases of moderate (P < 0.01) and severe (P < 0.001) blepharospasm as compared with controls. For corneal topometric indices, both ISV and IVA were significantly increased in severe blepharospasm (P < 0.05). Radii minimum were significantly increased in cases of moderate and severe blepharospasm (P < 0.05).There were no differences in corneal elevation and corneal pharcymetric parameters among the four groups, except for front BFS, which was significantly different in blepharospasm groups (P < 0.05). Final D values were significantly higher in the severe blepharospasm (P < 0.01) group than that among controls. There were significant correlations between the blink rate and most corneal tomographic parameters. All parameters showed high reproducibility (ICC: 0.921-0.996) for normal and blepharospasm subjects., Conclusions: Blepharospasm may lead to a redistribution of the pressure applied by the lids over the cornea and, consequently, may result in corneal shape changes, which can be documented through corneal topography.

Purpose of Review: To review new developments in the medical and surgical treatment options for benign essential blepharospasm (BEB)., Recent Findings: Botulinum toxin injections remain the mainstay treatment for BEB with several formulations currently commercially available. Reports in the medical literature support photochromatic modulation for the symptoms of photophobia, as well as oral medications and surgical myectomy for control of the motor signs of eyelid protractor spasm., Summary: Although there remains no cure for BEB, several treatment options are available to effectively manage the signs and symptoms of the condition.

Primary blepharospasm is an adult-onset focal dystonia characterised by involuntary contractions of the orbicularis oculi, leading to bilateral spasmodic closure of the eyelids. While spasms of this muscle constitute the hallmark of disease, other motor manifestations include increased spontaneous blinking and apraxia of eyelid opening. Originally misdiagnosed as a psychiatric condition, blepharospasm is now well established as being of neurological origin although questions remain as to its pathophysiological mechanisms.We report a 66-year-old woman who had a 14-year history of primary blepharospasm which completely resolved following a left medial cerebral artery thromboembolic infarct of the lenticular nucleus. This report provides supporting evidence of the lenticular nucleus as a key structure mediating the disease which can lead to functional blindness., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Presentation of a congenital abnormality that is rare, but follows a distinct course and can be diagnosed and cured promptly if the pathognomonic presentation is recognized. A congenital tarsal kink leads to a malposition of the upper eyelid margin that must not be missed, as it will lead to ulcerative keratitis if it is not treated., Case Presentation: An otherwise healthy newborn was presented after delivery with forceps with marked unilateral purulent secretion and blepharospasm., Differential Diagnosis: Neonatal dacryocystitis, gonococcal infection, congenital entropion with ulcerative keratitis, tarsal kink., Examination: It was not possible to fully examine the lid and cornea with the baby awake. Due to total inversion of the lid margin, no lashes could be seen. Under general anesthesia, the tarsal kink, with complete inversion of the lid margin and a corneal ulcer, was confirmed., Treatment: The literature offers several methods to correct this rare malposition, all of which aim to strengthen the anterior lamella to correct the kink. After incision of the kink and repositioning of the tarsus and securing the position with fixation sutures, the ulcer healed quickly and completely; lid closure and lid contour were normal and symmetrical., Summary: Complete inversion of the lid margin is the pathognomonic sign of tarsal kink, giving the impression of "missing" lashes, accompanied by blepharospasm, followed by purulent secretion and corneal ulceration. The condition must not be misdiagnosed as only immediate correction can prevent severe damage., Competing Interests: Interessenkonflikt: Die Autoren geben an, dass kein Interessenkonflikt besteht., (Georg Thieme Verlag KG Stuttgart · New York.)

Introduction: Blepharospasm is a focal dystonia characterized by involuntary cocontraction of the eyelid protractors, causing spasmodic closure of the eyelids. Apraxia of eyelid opening is caused by an inability to initiate lid opening without paralytic abnormality. Some studies suggest that patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening are more prone to developing Parkinson's disease., Methods: In our study, 123 I-FP-CIT (DAT) SPECT was performed in 24 patients with either pure blepharospasm or blepharospasm associated with apraxia of eyelid opening and no signs of parkinsonism to identify dopaminergic dysfunction., Results: DAT-SPECT was abnormal in 11 (46%) cases (five patients with isolated blepharospasm and six patients with blepharospasm associated with apraxia of eyelid opening) whose mean disease duration was 11 years., Conclusion: Our study revealed presynaptic dopaminergic dysfunction, as determined by 123 I-FP-CIT or DAT-SPECT, in nearly half of our blepharospasm patients (with or without apraxia of eyelid opening). Thus, the presence of blepharospasm might be an early sign of a parkinsonian syndrome., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds. Ictal EEG showed rhythmic, generalized slow or spike-and-wave complex activity with posterior predominance. Moderate psychomotor developmental delay and unsteady gait were also noted. Neuroimaging results were normal. Seizures were refractory to carbamazepine and levetiracetam but were reduced in frequency by ethosuximide and lamotrigine administration. Genetic analysis identified a c.3583-6 G>A mutation in the SYNGAP1 gene. SYNGAP1 gene analysis should be considered for intellectually disabled patients with early-onset drug resistant eyelid twitching and photosensitivity. Further clinical research on SYNGAP1 function may be necessary to treat epilepsy of this aetiology. [Published with video sequence on www.epilepticdisorders.com].

The aim of the study was to evaluate diagnostic tests for keratoconjunctivitis sicca (Schirmer test, tear break-up time (TBUT) test, and corneal staining with fluorescein and lissamine green dye) in patients with blepharospasm. This prospective study included 60 female patients older than 40 with blepharospasm, divided into two groups according to clinical symptoms. For fluorescein test, the surface under the ROC curve was 1.0 with standard error (SE) 0 and 95% confidence interval (95% CI) 0.940-1.0; for Schirmer test, the surface under the ROC curve was 0.817 with SE 0.0555 and 95% CI 0.696-0.905; for lissamine green test, the surface under the ROC curve was 0.813 with SE 0.056 and 95% CI 0.691-0.902; and for TBUT test, the surface under the ROC curve was 0.772 with SE 0.061 and 95% CI 0.645-0.870. According to the results of ROC curve, which determines the sensitivity and specificity of normal values, comparison of diagnostic tests for keratoconjunctivitis sicca used in this study showed that fluorescein test had the best sensitivity and specificity. Schirmer test should be avoided in patients with blepharospasm because its results are influenced by frequent blinking and are not appropriate for study interpretation. Despite the pathologic values of TBUT test (numerically), this test is still acceptable for patients with blepharospasm because its interval takes more time than the interval between two blinks.

Objectives: Although photophobia is a well-known symptom in various disorders, it has rarely been studied explicitly and its definition in a clinical setting can be somewhat elusive. Here, we assessed photophobia with a common psychometric tool in different conditions, in which light intolerance is considered part of the syndrome., Patients and Methods: A prospective study was undertaken in patients with migraine (MH), cluster headache (CH), tension-type headache (TH), essential blepharospasm (BS) and major depression (MD). Photophobia was assessed by the photophobia questionnaire (range 0-8). Symptom severity was measured in each patient group with appropriate scales. Finally, depression was assessed explicitly in each condition., Results: Hundred and six subjects met the inclusion criteria (MH: 27, CH: 21, TH: 20, BS: 18, MD: 20). Photophobia scores differed between patient groups, with migraineurs showing the highest (6.63) and TH patients the lowest (2.10) scores (ranking: MH, BS, CH, MD and TH). Symptom severity as well as depression had little, if any, influence on the degree of photophobia., Discussion: Photophobia is a core symptom of migraine but also constitutes a feature of other neurological conditions. The relative independence from other, disease-specific features, suggests that photophobia is a rather autonomous symptom.

Background: The "other Babinski sign" consists in the co-contraction of the orbicularis and frontalis muscles, causing an eyebrow elevation during ipsilateral eye closure. It cannot be voluntarily reproduced., Aims of the Study: To determine the utility of this sign in the differential diagnosis of hyperkinetic facial disorders., Methods: The presence of the sign was assessed in consecutive patients with blepharospasm, primary hemifacial spasm or post-paralytic facial syndrome treated in a botulinum toxin outpatient clinic., Results: Of the 99 patients identified, 86 were included, 41 with blepharospasm (32 female, mean age 71±11years), 28 with hemifacial spasm (16 female, mean age 65±12years) and 17 with post-paralytic facial syndrome (14 female, mean age 50±17years). The sign was detected in 67.9% of the patients with hemifacial spasm, in 23.5% of the post-paralytic facial syndrome group and in none of the patients with blepharospasm, exhibiting a sensitivity of 51% and a specificity of 100% for the diagnosis of hemifacial spasm/post-paralytic facial syndrome and a specificity of 76% for hemifacial spasm, compared to post-paralytic facial syndrome., Conclusions: This sign is highly specific for the diagnosis of peripherally induced hyperkinetic facial disorders. Its assessment should integrate the routine examination of patients with abnormal facial movements., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Background: Idiopathic blepharospasm is a clinically heterogeneous condition. It is not known whether the various manifestations become manifest sequentially during the course of the disease or aggregate in separate clusters identifying subpopulations of patients., Methods: Eighty-nine patients with idiopathic blepharospasm were assessed using k-means cluster analysis to identify relatively homogeneous groups on the basis of low-intragroup/high-intergroup differences across a set of selected variables., Results: The results suggest that there may be three groups of patients. Group 1 included patients who had prolonged muscle spasms leading to complete rim closure associated with brief and/or prolonged spasms with incomplete rim closure, the most severe blepharospasm, and a greater tendency to spread to adjacent segments. Group 2 included patients characterized by prolonged spasms with partial rim closure, either alone or associated with brief spasms whereas Group 3 included patients with brief spasms with complete rim closure, the least severe blepharospasm, and the lowest tendency to spread. The severity of Group 2 blepharospasm was between that observed in Group 1 and Group 3, while the tendency to spread was similar to Group 3. The three groups did not differ for disease duration, age of onset, sex and other clinical features. The observation that inhibition of the R2 component of the blink reflex recovery cycle was more abnormal in Groups 1/2 2 than in Group 3 at least in part validates our classification., Conclusions: The present study suggests that blepharospasm patients may be classified in different subtypes according to the type of spasms, severity of the condition and tendency to spread., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Introduction: Parkinsonian-Pyramidal syndrome (PPS), defined as the combination of both pyramidal and parkinsonian signs is a concept that recently emerged. PPS may manifest itself in numerous neurodegenerative diseases, many of these being inherited. Their diagnosis is a major challenge for the clinical management, for the prognosis, for genetic counselling and, in a few cases, which should not be neglected, for specific treatment., Objective: Our objective is to provide a review of PPS and an algorithm in order to guide their diagnosis in clinical practice., Methods: We performed an exhaustive PubMed and OMIM research matching the following key words: "Parkinsonism and pyramidal signs" or "Parkinsonism and spasticity" or "pallido-pyramidal syndrome" or "Parkinsonism and spastic paraplegia". English publications from the last ten years were included., Results: We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial brain calcifications, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS. We therefore suggest guidelines (based on age at onset, family history, associated clinical signs, brain MRI findings as well as certain laboratory investigations), for the diagnosis and the management of PPS. Many pathophysiological pathways may underlie PPS but the most frequent are those usually involved in both inherited Parkinson's disease and spastic paraplegia, i.e. mitochondrial pathway, vesicular trafficking including endosomal and lysosomal pathways as well as autophagy., (Copyright © 2017 Elsevier Ltd. All rights reserved.)