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Acta Neurochirurgica Sep 2022Isolated orofacial dystonia is a rare segmental neurological disorder that affects the eye, mouth, face, and jaws. Current literature on pallidal surgery for orofacial...
BACKGROUND
Isolated orofacial dystonia is a rare segmental neurological disorder that affects the eye, mouth, face, and jaws. Current literature on pallidal surgery for orofacial dystonia is limited to case reports and small-scale studies. This study was to investigate clinical outcomes of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with isolated orofacial dystonia.
METHODS
Thirty-six patients who underwent GPi DBS at Incheon St. Mary's Hospital, The Catholic University of Korea, between 2014 and 2019 were included in this study. Burke-Fahn-Marsden Dystonia Rating Scale, Unified Dystonia Rating Scale, and Global Dystonia Severity Rating Scale were retrospectively retrieved for analysis before surgery, at 6-month follow-up as short-term outcome, and at follow-up over 1 year (12 months to 69 months) as long-term results.
RESULTS
Mean total BFMDRS-M scores at the three time points (baseline, 6 months, and over 1 year follow-up) were 11.6 ± 4.9, 6.1 ± 5.2 (50.3 ± 29.9% improvement, p < 0.05), and 4.3 ± 4.2 (65.0 ± 24.2% improvement, p < 0.05), respectively. In terms of UDRS and GDS, improvement rates were 45.1% (p < 0.001) and 47.7% (p < 0.001) at 6 months, and 63.8% (p < 0.001) and 65.7% (p < 0.001) at over 1 year after surgery, respectively.
CONCLUSIONS
Bilateral GPi DBS in isolated orofacial dystonia can be effective if conservative treatment option fails. Its benefit is not only observed in a short term, but also maintained in a long-term follow-up.
Topics: Deep Brain Stimulation; Dystonia; Globus Pallidus; Humans; Retrospective Studies; Treatment Outcome
PubMed: 35896828
DOI: 10.1007/s00701-022-05320-9 -
Current Opinion in Neurology Aug 2022Deep brain stimulation (DBS) is currently the most effective treatment for medically refractory dystonia with globus pallidus internus (GPi) usually the preferred... (Review)
Review
PURPOSE OF REVIEW
Deep brain stimulation (DBS) is currently the most effective treatment for medically refractory dystonia with globus pallidus internus (GPi) usually the preferred target. Despite the overall success of DBS in dystonia, there remains variability in treatment outcome in both short and long-term follow-up, due to various factors. Factors contributing to variability in outcome comprise 'Dystonia Related' including dystonia classification, semiology, duration, body distribution, orthopaedic deformity, aetiology and genetic cause. The majority of these factors are identifiable from clinical assessment, brain MRI and genetic testing, and therefore merit careful preoperative consideration. 'DBS related' factors include brain target, accuracy of lead placement, stimulation parameters, time allowed for response, neurostimulation technology employed and DBS induced side-effects. In this review, factors contributing to variability in short and long-term dystonia DBS outcome are reviewed and discussed.
RECENT FINDINGS
The recognition of differential DBS benefit in monogenic dystonia, increasing experience with subthalamic nucleus (STN) DBS and in DBS for Meige syndrome, elucidation of DBS side effects and novel neurophysiological and imaging techniques to assist in predicting clinical outcome.
SUMMARY
Improved understanding of factors contributing to variability of DBS outcome in dystonia may assist in patient selection and predicting surgical outcomes.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Follow-Up Studies; Globus Pallidus; Humans; Subthalamic Nucleus; Treatment Outcome
PubMed: 35787538
DOI: 10.1097/WCO.0000000000001072 -
Journal of the Neurological Sciences Aug 2022Blepharospasm is one of the most common subtypes of dystonia, and often spreads to other body regions. Despite published guidelines, the approach to diagnosis and...
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.
Topics: Blepharospasm; Cross-Sectional Studies; Dystonia; Dystonic Disorders; Humans
PubMed: 35716653
DOI: 10.1016/j.jns.2022.120319 -
NeuroImage. Clinical 2022Blepharospasm is a debilitating focal dystonia characterized by involuntary eyelid spasms that can be accompanied by oromandibular muscle involvement (Meige's syndrome)....
BACKGROUND
Blepharospasm is a debilitating focal dystonia characterized by involuntary eyelid spasms that can be accompanied by oromandibular muscle involvement (Meige's syndrome). Frequently observed abnormality in functional neuroimaging hints at an important position of the thalamus, that relays involved cortico-basal ganglia-cortical and cortico-cerebello-cortical circuits, within the abnormal network in blepharospasm.
OBJECTIVE
To characterize abnormal cortico-thalamic structural/streamline connectivity (SC) patterns in the disease, as well as their potential co-occurrence with abnormal subcortico-thalamo-cortical projections using diffusion tractography.
METHODS
Diffusion imaging was obtained in 17 patients with blepharospasm (5 with mild lower facial involvement) and 17 healthy controls. Probabilistic tractography was used for quantification of SC between six cortical regions and thalamus, and voxel-level thalamic SC mapping as well as evaluation of the thalamic SC distributions' topography by center-of-gravity analysis was performed. Post-hoc, correlations of SC with clinical parameters were evaluated. Further, white matter integrity was investigated within representative segments of the dentato-thalamo-cortical and pallido-thalamo-cortical tract.
RESULTS
Connectivity mapping showed significant reduction of right (pre)motor- and left occipital-thalamic SC, as well as a topographic shift of the left occipital-thalamic SC distribution in patients. Significant positive correlation of occipital-thalamic SC with disease severity was found. Post-hoc analysis revealed significantly reduced mean fractional anisotropy in patients within the dentato-thalamo-cortical trajectory connecting to right (pre)motor and left occipital cortex.
CONCLUSION
Abnormal occipital/motor SC provides evidence for dysfunction of the thalamus-relayed visual and motor network as a key aspect in the disease. Concurrent impairment of microstructural integrity within the dentato-thalamic trajectories targeting those cortices hints at cerebellar contribution.
Topics: Basal Ganglia; Blepharospasm; Dystonic Disorders; Humans; Magnetic Resonance Imaging; Neural Pathways; Thalamus
PubMed: 35483134
DOI: 10.1016/j.nicl.2022.103013 -
Frontiers in Aging Neuroscience 2022The subthalamic nucleus (STN) has been shown to be a safe and effective deep brain stimulation (DBS) surgical target for the treatment of Meige syndrome. The aim of this...
OBJECTIVES
The subthalamic nucleus (STN) has been shown to be a safe and effective deep brain stimulation (DBS) surgical target for the treatment of Meige syndrome. The aim of this study was to compare changes in brain metabolism before and 6 months after STN-DBS surgery.
METHODS
Twenty-five patients with primary Meige syndrome underwent motor function assessment, including the Burke-Fahn-Marsden Dystonia Rating Scale movement (BFMDRS-M) and disability subscale (BFMDRS-D) and positron emission tomography with an 18[F]-fluorodeoxyglucose scan before and 6 months after STN-DBS surgery. For the voxelwise metabolic change assessment, the -value was controlled for multiple comparisons using the familywise error rate.
RESULTS
There was a significant decrease in BFMDRS-M scores 6 months after STN-DBS, from 10.02 ± 3.99 to 4.00 ± 2.69 ( < 0.001). The BFMDRS-D scores also decreased significantly from 4.52 ± 2.90 to 0.64 ± 1.29 ( < 0.001). In the left hemisphere, hypermetabolism was found in the occipital lobe, superior parietal gyrus, postcentral gyrus and thalamus. In the right hemisphere, hypermetabolism was found in the lentiform nucleus, precuneus and precentral gyrus in patients with Meige syndrome receiving DBS. In addition, the bilateral inferior temporal gyrus and middle frontal gyrus exhibited glucose hypermetabolism.
CONCLUSION
Our findings indicate that STN-DBS has a significant effect on metabolic level in the brain, which may be an important mechanism for the treatment of Meige syndrome using STN-DBS.
PubMed: 35370610
DOI: 10.3389/fnagi.2022.848100 -
Asian Journal of Surgery Jul 2022
Topics: Adenylyl Cyclases; Humans; Meige Syndrome; Mutation
PubMed: 35288007
DOI: 10.1016/j.asjsur.2022.02.061 -
Neurological Sciences : Official... Jun 2022Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia;...
OBJECTIVE
Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). Up to now, the pathogenic genes of MS and BSP are still unclear.
METHODS
We performed Sanger sequencing of GNAL, TOR1A, TOR2A, THAP1, and REEP4 exons on 78 patients, including 53 BSP and 25 MS and 96 healthy controls.
RESULTS
c.845G > C[R282P] of TOR1A, c.629delC[p.Gly210AlafsTer60] of TOR2A, c.1322A > G[N441S] of GNAL, c.446G > A[R149Q], and c.649C > T[R217C] of REEP4 were identified and predicated as deleterious probably damaging variants. Three potential alterations of splicing variants of TOR1A and TOR2A were identified in patients. The frequencies of TOR1A rs1435566780 and THAP1 rs545930392 were higher in patients than in controls.
CONCLUSIONS
TOR1A rs1435566780 (c.*16G > C(G > A)) and THAP1 rs545930392 (c.192G > A[K64K]) may contribute to the etiology of MS and BSP. Other identified rare mutations predicted as deleterious probably damaging need further confirmation. Larger MS and BSP cohorts and functional studies will need to be performed further to elucidate the association between these genes and the diseases.
Topics: Apoptosis Regulatory Proteins; Blepharospasm; DNA-Binding Proteins; Dystonia; Dystonic Disorders; Genetic Testing; Humans; Meige Syndrome; Membrane Transport Proteins; Molecular Chaperones
PubMed: 35044558
DOI: 10.1007/s10072-022-05900-8 -
Brain Stimulation 2022
Topics: Humans; Meige Syndrome; Transcranial Magnetic Stimulation
PubMed: 34800698
DOI: 10.1016/j.brs.2021.11.013 -
Revue Neurologique Jun 2022Henry Meige (1866-1940), a French neurologist, the pupil of Charcot, is remembered for the eponym, the Meige syndrome, describing the clinical picture of craniocervical... (Review)
Review
BACKGROUND
Henry Meige (1866-1940), a French neurologist, the pupil of Charcot, is remembered for the eponym, the Meige syndrome, describing the clinical picture of craniocervical dystonia. This historical review highlights the controversies from his essay on "Le Juif Errant" (the Wandering Jew), and the evolution of his understanding of the movement disorders of the face and neck at the time of the encephalitis lethargica.
RESULTS
His thesis reported 5 patients from Eastern Europe, presenting with functional neurological disorders following traumatic life experiences. He wrote with Feindel the first book on movement disorders "Les tics et leur traitement". He pioneered the concept of focal dystonia and distinguished the facial median spasm as a dystonic movement disorder of the face. He highlighted the co-existence of psychopathology and the influence of the mental on tics and dystonia. He coined with Brissaud and Feindel the term "geste antagoniste" in cervical dystonia. He emphasized the importance of self-management and psycho-motor retraining for focal dystonia.
CONCLUSION
Meige made an invaluable contribution to our understanding of movement disorders, during his long medical career. The eponym Meige syndrome should be retained to describe an individual clinical entity.
Topics: Conversion Disorder; Humans; Male; Meige Syndrome; Movement Disorders; Tics; Torticollis
PubMed: 34799079
DOI: 10.1016/j.neurol.2021.07.024 -
Frontiers in Neuroscience 2021Uric acid (URIC) is a natural antioxidant, and it has been shown that low levels of URIC could be a risk factor for the development of Parkinson's disease. Our aim was...
Uric acid (URIC) is a natural antioxidant, and it has been shown that low levels of URIC could be a risk factor for the development of Parkinson's disease. Our aim was to investigate whether URIC also plays a role in Meige's syndrome (MS). We conducted a cohort study to compare serum URIC levels between patients with MS and healthy controls. In addition, we analyzed the impact of URIC on the risk of MS and symptom severity. Compared with normal subjects, URIC content was remarkably decreased in MS patients. In addition, URIC was regarded as a protective factor for MS, as verified by multivariate logistic regression models. We also found non-linear relationships between the levels of serum URIC and the incidence rate of MS and the Burke-Fahn-Marsden dystonia rating scale score. Our study is the first to show a connection between serum URIC levels and MS. Low serum URIC levels indicate an increased risk of MS incidence and more severe clinical symptoms. Our findings provide new insights into the prevention and treatment of MS.
PubMed: 34658782
DOI: 10.3389/fnins.2021.755056