Are Cognitive Symptoms Part of the Phenotypic Spectrum of Idiopathic Adult-Onset Dystonia? Summary of Evidence from Controlled Studies.

BACKGROUND: Cognitive dysfunction has been reported in idiopathic adult-onset dystonia (IAOD), but whether this is a primary or secondary component of the disorder remains uncertain. OBJECTIVE: Here, we aimed to analyze the key domains of abnormal cognitive performance in IAOD and whether this is associated with motor or mood changes. METHODS: Article selection for our critical review was guided by PRISMA guidelines (mesh terms "dystonia" and "cognitive," publication period: 2000-2022). Only peer-reviewed, English-language original case-control studies involving patients with IAOD who were not exposed to dopamine- or acetylcholine-modulating agents and validated cognitive assessments were included. RESULTS: Abstract screening ultimately yielded 22 articles for full-text review and data extraction. A greater proportion of studies (17 of 22, 82%) reported abnormal cognitive performance in IAOD. Most of these studies focused on blepharospasm (BSP) and cervical dystonia (10 and 14, respectively). Most studies reporting cognitive impairment (11 of 17) identified multidomain impairment in cognition. Executive functions were the domain most frequently explored (14 of 22 studies), 79% of which detected worse performance in people with dystonia. Results related to other domains were inconclusive. Cognitive abnormalities were independent of motor symptoms in most studies (7 of 12) that explored this relationship and independent of mood status in all 8 that investigated this. CONCLUSIONS: Within IAOD, cognitive dysfunction (in particular, executive dysfunction) has been documented mainly in BSP and cervical dystonia. More comprehensive testing is warranted to assess abnormalities in other domains and in other forms of IAOD, as well as to evaluate longitudinal progression of cognitive disturbances in this condition.

Sjogren's syndrome meets Meige's syndrome.

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.

[Mental disorders in blepharospasm]. / Psikhicheskie rasstroistva pri blefarospazme.

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.

Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil.

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.

Evaluation of non-motor symptoms in cervical dystonia, hemifacial spasm, and blepharospasm patients and their correlation with motor symptoms.

BACKGROUND: Awareness of non-motor symptoms has been increasing in recent years, but there are still few studies on this topic. OBJECTIVE: Our aim was to evaluate various non-motor symptoms, especially psychiatric disorders, cognitive status, and sleep, in cervical dystonia (CD), hemifacial spasm (HFS), and blepharospasm (BPS) patients and to investigate whether these symptoms are related to the severity of motor symptoms. METHODS: This was a single-center cross-sectional, observational, case-control study. Motor severity scales were used to determine disease severity. We evaluated non-motor symptoms with commonly used scales. A total of 73 patients and 73 control groups participated. RESULTS: In CD patients, the MoCA total score, 'language', 'abstraction', and 'orientation' scores were statistically significantly lower; PSQI, ESS, and NMSQ scores were statistically significantly higher than controls. In the BPS group, the MoCA total score and the 'language' score were significantly lower, and the NMSQ score was statistically significantly higher than the controls. In the HFS group, MoCA total score, 'executive functions', 'language', and 'abstraction' scores were statistically significantly lower; PSQI scores are statistically significantly higher than controls. There was a positive correlation between the severity score and the PSQI score in the CD group and between the severity score and the NMSQ score in the BPS group. All three groups had significant cognitive impairments. CONCLUSIONS: In CD, BPS, and HFS, non-motor symptoms are apparent with undeniable frequency in addition to common motor symptoms. Importantly, these NMS may cause significant deterioration in the quality of life of the patients.

Relations between nonmotor manifestations and motor disorders in patients with benign essential blepharospasm.

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.

Evaluation of Blepharoptosis in Patients With Refractory Blepharospasm by VISA-Video Recordings, Idiosyncratic Expressions, Sensory Tricks, and Ancillary Procedures.

BACKGROUND: How to evaluate blepharoptosis concomitantly presented with refractory and uncontrollable blepharospasm? To date, there is a paucity of publications on the ideal evaluation methods. An innovative method-video recordings, idiosyncratic facial expressions, sensory tricks, and ancillary procedures (VISA)-is developed for preoperative evaluation, and the surgical outcomes are demonstrated. METHODS: A retrospective study using VISA for blepharoptosis evaluation was conducted on 51 patients with refractory blepharospasm. Based on the evaluation, patients underwent blepharoptosis correction simultaneously besides the selective myectomy and myotomy in situ of the eyelid protractors for blepharospasm. Preoperative and postoperative palpebral fissure height, margin reflex distance 1, ptosis severity, and levator function were assessed to identify the effectiveness of VISA. All the procedures were performed by the senior author C.-S.L. RESULTS: There were 42 patients diagnosed with essential blepharospasm and 9 patients with Meige syndrome. Forty-one patients (82/102 eyelids [80.4%]) had concomitant blepharoptosis and blepharospasm. Ptosis severity was mild in 21 eyelids (25.6%), moderate in 12 eyelids (14.6%), and severe in 49 eyelids (59.8%). Preoperative/postoperative (6 months) values of palpebral fissure height, margin reflex distance 1, and levator function were 4.70 ± 2.45 mm/8.35 ± 1.33 mm (P < 0.05), -0.30 ± 3.19 mm/3.73 ± 1.05 mm (P < 0.05), and 13.07 ± 2.56 mm/13.68 ± 2.34 mm (P < 0.05), respectively. Undercorrection and revision rate reported 9.8% and 3.7%, individually. CONCLUSIONS: VISA approach overcomes the difficulty of blepharoptosis assessment in patients with refractory blepharospasm. It provides useful preoperative information required for adequate blepharoptosis correction in blepharospasm surgery and yielded desirable outcomes.

Blepharospasm as a tardive manifestation of COVID-19 disease: A case report.

We report three cases of blepharospasms developed after a symptomatic COVID-19 infection, in order to describe a possible association between COVID-19 infection and essential blepharospasm. Blepharospasm could represent a late sign of COVID-19 infection (more than four weeks after the contagion) and may be triggered by the neurotropism of the coronavirus.

Dystonic tremor and blepharospasm in a patient with deletion of 18q.

18q- Syndrome is a rare chromosomic syndrome where neurological involvement is scarcely described. Movement disorders are rare and only one case with dystonia was described. In our paper, we describe the second report of a patient with 18q- Syndrome, blepharospasm, and dystonic tremor of his right hand and hyperthyroidism instead of hypothyroidism.

Lid wiper epitheliopathy in patients with blepharospasm and/or hemifacial spasm.

OBJECTIVE: To evaluate the presence of wiper epitheliopathy in patients with blepharospasm and/or hemifacial spasm before and 4 weeks after routine treatment with botulinum toxin. METHODS: Prospective study comprising 31 eyes of 20 patients with neurological diagnosis of hemifacial spasm (9 eyes of 9 patients) and essential blepharospasm (22 eyes of 11 patients). Various ocular surface parameters were assessed before and 4 weeks after infiltration with botulinum toxin using the OSDI questionnaire, Schirmer's test, tear break-up time (BUT), fluorescein and lissamine green staining assessed with the Oxford test and the degree of involvement of the palpebral wiper. RESULTS: 100% of the patients had palpebral wiper involvement before (30% mild and 70% moderate) and after toxin treatment (100% mild). 75% of patients had mild-normal OSDI before treatment, after treatment it was 80%. The BUT was 7.2 ±â€¯0.2 sg before and 7.5 ±â€¯0.7 sg after treatment. Schirmer's test was 11.4 ±â€¯5.5 and 12.5 ±â€¯5.5 mm before and after treatment. The Oxford test was initially pathological in 69.3% of patients, after 4 weeks it was pathological in only 54%. CONCLUSION: Wiper epitheliopathy is present in 100% of patients with blepharospasm and/or hemifacial spasm. The main pathophysiological mechanism that triggers it in these patients is the increase in the coefficient of friction, as tear volume and stability are normal.

[Dry eye and qualitative tear alteration in essential blepharospasm]. / Sécheresse oculaire et altération qualitative des larmes dans le blépharospasme essentiel.

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.

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.

BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.

Excessive daytime sleepiness in idiopathic blepharospasm.

OBJECTIVE: To explore the frequency of excessive daytime sleepiness (EDS), and its impact on quality of life and its associated clinical factors in idiopathic blepharospasm. METHODS: This cross-sectional study was carried out in 425 idiopathic blepharospasm patients and a group of 424 age-matched and sex-matched healthy subjects. EDS was assessed with the Epworth Sleepiness Scale (ESS) in all subjects. Other clinical characteristics of patients with idiopathic blepharospasm including motor symptoms, sleep quality, depression, anxiety, cognition, and quality of life were also assessed. RESULTS: EDS was significantly more frequent in patients with idiopathic blepharospasm than in controls (22.1% vs 12.3%; p < 0.05). Blepharospasm patients with EDS scored significantly higher in Jankovic Rating scale, Hamilton Rating Scale for Depression (HDRS), Hamilton Rating Scale for Anxiety (HARS), and significantly lower in Montreal Cognitive Assessment (MoCA) and 36-Item Short Form Health Survey (SF-36) than those without EDS (p < 0.05). The binary logistic regression model indicated that male, younger age of onset of blepharospasm, higher motor scores, higher HDRS scores, and lower MoCA scores were associated with the presence of EDS in patients with blepharospasm (p < 0.05). CONCLUSIONS: Recognition and management of EDS in idiopathic blepharospasm patients is necessary as the occurrence of EDS was associated with higher motor burden, more serious mood and cognitive disturbances, and poorer quality of life. Our results suggest that blepharospasm may exhibit abnormal sleep-wake patterns and further support the clinical heterogeneity of the disease.

Smell and taste in idiopathic blepharospasm.

The pathophysiology of blepharospasm is incompletely understood. Current concepts suggest that blepharospasm is a network disorder, involving basal ganglia, thalamus, cortex, and, possibly, the cerebellum. Tracing, imaging, and clinical studies revealed that these structures are also concerned with olfaction and taste. Because of this anatomical overlap, dysfunction of the chemical senses in blepharospasm is expected. Injections of botulinum toxin into the eyelid muscles are the first-line treatment of blepharospasm. Yet, the effects of botulinum toxin on the chemical senses have not been systematically assessed. To contribute to a better understanding of blepharospasm, olfactory and gustatory abilities were assessed in 17 subjects with blepharospasm and 17 age-/sex-matched healthy controls. Sniffin Sticks were used to assess odor threshold, odor discrimination, and odor identification. Results of these three Sniffin Sticks subtests were added to the composite olfactory score. The Taste Strips were applied to assess taste. In an adjacent study, we assessed the sense of smell and taste in eight subjects with blepharospasm before and 4 weeks after botulinum toxin treatment. Subjects with blepharospasm had significantly lower (= worse) scores for odor threshold and for the composite olfactory score than healthy controls, while odor discrimination, odor identification, and the composite taste score were not different between groups. The adjacent study revealed that botulinum toxin did not impact the chemical senses. In this study, subjects with blepharospasm had a lower (= worse) odor threshold than healthy controls. As olfaction is important in daily life, findings justify further research of olfaction in blepharospasm.

Secondary blepharospasm, analysis and pathophysiology of blepharospasm.

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.

[Blepharospasm, dry eye and extractable nuclear antigen antibodies (French translation of the article)]. / Blépharospasme, sécheresse oculaire et anticorps anti-nucléaires solubles.

PURPOSE: The goal of this study is to determine a link between benign essential blepharospasm and Sjogren's syndrome by analyzing the presence of extractable nuclear antigens in this population. METHODS: Seventy-two patients with benign essential blepharospasm (BEB) were included in this study. We eliminated patients with hemifacial spasm or blepharospasm secondary to corneal pathology. We collected the values of the Schirmer I test and the results of the anti-SSA and anti-SSB antibodies. RESULTS: Our study included 72 patients (144 eyes) whose 62 women (86.1%). Mean age was 74.3 years±10.73. Average Schirmer I test was 3.14mm±4.00mm. Five women (8% of this female population) had positive anti-SSA and SSB antibodies. Their mean age was 65.66 years±13.24 whereas the negative antibody patients had an average age of 75.42±9.27. There was no significant difference between their Schimer I test and the Schirmer I of negative antibody population. CONCLUSION: This study illustrates the possible association between the presence of Sjögren's syndrome and the occurrence of a BEB justifying the search for anti-SSA and anti SSB in blepharospasm patients.