Hemidystonia-hemiatrophy syndrome following placement of internal carotid artery flow diverter stent.

We report hemidystonia and cerebral hemiatrophy in a 39-year old woman beginning three months after placement of an internal carotid artery flow diverting stent for supraclinoid aneurysm, complicated by early post-procedural stroke. We highlight the unusual demographics and short latency to onset, as well as the occurrence of striatal mineralisation, which may reflect ongoing neurodegeneration, but has also been suggested to contribute to oxidative neuronal injury. The late age of the inciting cerebral insult and of onset of the movement disorder, temporal course, and relation to endovascular intervention serve to expand the spectrum of this unusual condition.

Outcomes of Unilateral Pallidotomy in Focal and Hemidystonia Cases: A Single-Blind Cohort Study.

BACKGROUND: The role of deep brain stimulation in the treatment of dystonia has been widely documented. However, there is limited literature on the outcome of lesioning surgery in unilateral dystonia. OBJECTIVE: We restrospectively reviewed our cases of focal and hemidystonia undergoing unilateral Pallidotomy at our institute to evaluate the short-term and long-term outcome. METHODS: Patients who underwent radiofrequency lesioning of GPi for unilateral dystonia between 1999 and 2019 were retrospectively reviewed. All patients were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS) preoperatively at the short term follow-up (<1 year) and at long-term follow-up (2-7.5 years). Video recordings performed at these time points were independently reviewed by a blinded movement disorders specialist. RESULTS: Eleven patients were included for analysis. The preoperative, short-term, and long-term follow-up motor BFMDRS and DDS scores were 15.5 (IQR [interquartile range]: 10.5, 23.75) and 10.5 (IQR: 6.0, 14.5); 3.0 (IQR: 1.0, 6.0, P = 0.02) and 3.0 (IQR: 3.0, 8.0, P = 0.016); and 14.25 (IQR: 4.0, 20.0, P = 0.20) and 10.5 (IQR: 2.0, 15.0, P = 0.71) respectively. For observers B, the BFMDRS scores at the same time points were 19 (IQR: 12.5, 27.0), 7.5 (IQR: 6.0, 15.0, P = 0.002), and 21 (IQR: 7.0, 22.0, P = 0.65) respectively. The improvement was statistically significant for all observations at short-term follow-up but not at long-term follow-up. CONCLUSION: Pallidotomy is effective for hemidystonia or focal dystonia in the short term. Continued benefit was seen in the longer term in some patients, whereas others worsened. Larger studies may be able to explain this in future.

What Is Hemidystonia?

Background: Hemidystonia is defined as dystonia restricted to one side of the body. It is traditionally believed to result from a lesion in the contralateral hemisphere. Objectives: To describe a series of hemidystonia patients without lesions on brain imaging. Methods: We searched for individuals with potential hemidystonia who were included in the Dystonia Coalition or Movement Disorder Society Genetic mutation database (MDSgene), and conducted a systematic review. Results: We found 10 individuals classified as hemidystonia or with homolateral limb dystonia among 3696 cases enrolled by the Dystonia Coalition, 9 cases in MDSgene, and one idiopathic case in the literature. None had evidence of a brain lesion. Body distributions used to define hemidystonia varied considerably and were not always restricted to one side of the body. Conclusions: Hemidystonia may be idiopathic or genetic, without any obvious brain lesion. The varied use of the term suggests the need for more specific clinical criteria to define "half the body."

Deep brain stimulation for hemidystonia: A meta-analysis with individual patient data.

BACKGROUND: Deep brain stimulation (DBS) is now well established for the treatment of dystonic movement disorders. There is limited data, however, on the efficacy of DBS in hemidystonia. This meta-analysis aims to summarize the published reports on DBS for hemidystonia of different etiologies, to compare different stimulation targets, and to evaluate clinical outcome. METHODS: A systematic literature review was performed on PubMed, Embase and Web of Science to identify appropriate reports. The primary outcome variables were the improvement in the Burke-Fahn-Marsden Dystonia Rating Scale movement (BFMDRS-M) and disability (BFMDRS-D) scores for dystonia. RESULTS: Twenty-two reports (39 patients; 22 with pallidal stimulation, 4 with subthalamic stimulation, 3 with thalamic stimulation, and 10 with combined target stimulation) were included. Mean age at surgery was 26.8 years. Mean follow-up time was 31.72 months. An overall mean improvement of 40% in the BFMDRS-M score was achieved (range 0%-94%), which was paralleled by a mean improvement of 41% in the BFMDRS-D score. When considering a 20% cut-off for improvement, 23/39 patients (59%) would qualify as responders. Hemidystonia due to anoxia did not significantly improve with DBS. Several limitations of the results must be considered, most importantly the low level of evidence and the small number of reported cases. CONCLUSION: Based on the results of the current analysis, DBS can be considered as a treatment option for hemidystonia. The posteroventral lateral GPi is the target used most often. More research is needed to understand the variability in outcome and to identify prognostic factors.

Hemidystonia secondary to pediatric thalamic glioblastoma: a case report.

INTRODUCTION: Thalamic tumors are rare and uncommonly manifest as movement disorders, including hemidystonia. Despite this association, little is known about the evolution of hemidystonia. CASE DESCRIPTION: We report on a 11-year-old boy who complained of hypaesthesia and fine motor problems in the left hand. A magnetic resonance imaging showed a large mass in the right thalamus. Stereotactic biopsy revealed a WHO grade 4 astrocytoma, and the patient underwent normofractioned radiochemotherapy with proton-beam radiation and temozolomide. Three months later, a spastic hemiparesis developed on the left side, which progressed over months. Over the following months, the hemiparesis slowly improved, but hemidystonia in the same side developed. This was accompanied with radiological evidence of tumor regression, showing a persistent lesion in the ventral posterolateral and the intralaminar thalamus. CONCLUSION: This case illustrates the unusual and complex temporal course of appearance and disappearance of hemidystonia along with the regression and growth in glioblastoma involving the thalamus.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

INTRODUCTION: Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3-related disorders. CASE REPORT: We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2. A cerebral MRI showed bilateral perisylvian polymicrogyria with intact basal ganglia. Whole-exome and whole-genome sequencing analyses identified a de novo new ATP1A3 missense variant (p.Arg914Lys) predicted pathogenic. Hemidystonia was thought not to be due to polymicrogyria, but rather a consequence of this variant. CONCLUSION: This case expands the phenotypic spectrum of ATP1A3-related disorders with a new variant associated with hemidystonia and polymicrogyria and thereby, suggests a clinical continuum between the different phenotypes of this condition.

The Progress of the Gait Impairment and Brain Activation in a Patient with Post-stroke Hemidystonia.

OBJECTIVE: We explore the effects of body weight-supported (BWS) treadmill training, including the change of cortical activation, on a patient with post-stroke hemidystonia. PATIENT: The patient was a 71-year-old man with left thalamus hemorrhage. His motor symptoms indicated slight impairment. There was no overactive muscle contraction in the supine, sitting, or standing positions. During his gait, the right initial contact was the forefoot, and his right knee showed an extension thrust pattern. These symptoms suggested that he had post-stroke hemidystonia. METHODS: The patient performed BWS treadmill training 14 times over 3 weeks. The effects of the BWS training were assessed by a step-length analysis, electromyography and functional magnetic resonance imaging (fMRI). RESULTS: The patient's nonparetic step length was extended significantly in the Inter-BWS (p<0.001) and Post-BWS (p=0.025) periods compared to the Pre-BWS session. The excessive muscle activity of the right gastrocnemius medialis in the swing phase was decreased at the Inter-BWS, Post-BWS, and follow-up compared to the Pre-BWS session. The peak timing difference of the bilateral tibialis anterior muscle became significant (p<0.05) on the first day of the intervention. The fMRI revealed that the cortical areas activated by the motor task converged through the intervention (p<0.05, family-wise error corrected). CONCLUSION: These results suggest that there was improvement of the patient's symptoms of post-stroke hemidystonia due to changes in the brain activity during voluntary movement after BWS intervention. Body weight-supported treadmill training may thus be an effective treatment for patients with poststroke hemidystonia.

Uncommon Presentation of Rasmussen's Encephalitis.

Rasmussen's encephalopathy (RE) is an uncommon neurological disease of inflammatory origin which is characterized by intractable focal epilepsy, progressive limb weakness, and cognitive deterioration. RE presenting as movement disorder like hemidystonia or hemichorea is a rare occurrence. The duration of prodromal stage of RE is usually in weeks or months. Prolonged prodromal stage like in years is rarely reported. Magnetic resonance imaging (MRI) is a good biomarker in RE and it also suggests the sequential progression of disease. Here we report two cases of RE, one presenting with hemidystonia and other case with unusually prolonged prodromal stage duration of 7 years. In spite of severe hemi-atrophy of brain in second case response to immunomodulators was dramatic.

Hemiparkinsonism or Hemidystonia With Hemiatrophy Syndrome: A Case Series With Follow-Up.

Hemiparkinsonism-hemiatrophy syndrome (HPHA) and hemidystonia-hemiatrophy syndrome (HDHA) are rare movement disorders composed of hemidystonia or hemiparkinsonism that present with unilateral limb, face, trunk, or cerebral hemiatrophy and mostly occur following head trauma or postanoxic events. However, relatively little is known about the pathogenesis of these conditions. In our case series, we present three HPHA patients and one HDHA patient who underwent detailed neuropsychological, radiological, motor, and non-motor functional assessments with a mean follow-up of 2 years. We followed two patients who showed differences in their progression for more than 2 years: one barely progressed with no treatment, and the other exhibited levodopa-induce dyskinesia (LID) and definitive progression while receiving multiple adjunctive therapies. In addition, we performed positron emission tomography (PET) with 18F-fluorodeoxyglucose (FDG) and 18F-dihydroxyphenylalanine (DOPA) in one HPHA patient who showed bilaterally symmetrical uptake of FDG with no significant increase or decrease in the cerebral hemispheres, including the striatum, but exhibited a significant reduction in the uptake of 18F-DOPA in the contralateral posterior striatum. In this study, we followed HPHA patients who showed different disease courses to explore the clinical characteristics and pathogenesis of HPHA and HDHA and illustrate the clinical heterogeneity of these diseases.

Frameless stereotactic dual lead placement through single burr hole: A technical report.

Deep Brain Stimulation (DBS) surgery is a neurosurgical procedure involving the placement of stimulatory leads in subcortical structures. Rarely, DBS requires placement of dual ipsilateral leads. Previously, techniques for placing dual ipsilateral leads through a single burr hole were reported using a traditional stereotactic frame. Here, we demonstrate that dual ipsilateral leads can be safely and effectively placed through a single burr hole using a frameless stereotactic DBS system (NexFrame®) with only simple modifications to existing equipment.

Posttraumatic dystonia.

In most cases the cause for dystonia is unknown. In a small number of patients, trauma precedes the onset of the dystonia. Significant head trauma is a well-recognized precipitating factor in dystonia. However, it has become increasingly recognized that peripheral trauma can also result in dystonia. Secondary dystonia resulting from both central and peripheral trauma, its possible pathogenesis and treatment is discussed in this review.

Unilateral thalamic and pallidal deep brain stimulation for idiopathic hemidystonia: results of individual and combined stimulations. Case report.

Pallidal stimulation has been the usual surgical treatment for dystonia in the last decades. The continuous investigation of the physiopathology and the motor pathways involved leads to the search for complementary targets to improve results. The authors present the case of a 37-year-old woman who had suffered from idiopathic hemidystonia with hyperkinetic and hypokinetic movements for 11 years, and who was treated with deep brain stimulation. A brief literature review is also provided. The globus pallidus internus and the ventral intermediate/ventral oral posterior complex of the thalamus were stimulated separately and simultaneously for 3 months and compared using the Burke-Fahn-Marsden Dystonia Rating Scale and the Global Dystonia Severity Rating Scale, with a 3.5-year follow-up. The synergism of multiple-target stimulation resulted in a complete improvement of the mixed dystonic symptoms.

Globus Pallidus Internus Deep Brain Stimulation for Traumatic Hemidystonia Following Penetrating Head Injury.

BACKGROUND: Deep brain stimulation (DBS) has been a major advance in the treatment of dystonias. Outcomes are, however, less predictable for secondary dystonias, predominantly due to progression of disease or specific brain lesions. There are few cases reported of globus pallidus internus (GPi)-DBS for posttraumatic dystonia. We describe the successful use of unilateral GPi-DBS in a patient with hemidystonia following penetrating head injury. To our knowledge, this is the first description of the use of DBS following penetrating head injury. CASE DESCRIPTION: We present the case of a 47-year-old man with phasic hemidystonia. At the age of 3 years he suffered a penetrating head injury from a welding needle. The patient developed dystonic and phasic right-sided movements. Preoperative Burke-Fahn-Marsden score was 26. Magnetic resonance imaging showed a linear encephalomalacic track extending from the cortex in the left parieto-occipital region, traversing just superolateral to the left trigone into the left thalamus and ending in the region of left cerebral peduncle and subthalamic nucleus. There was no left GPi lesion. A left GPi-DBS electrode was inserted. At 6 months' follow-up, the patient's arm was more relaxed and his spasms lessened in their severity and frequency. Although the Burke-Fahn-Marsden score of 21 had improved modestly by 20%, pain and comfort levels had significantly improved with 50% improvement in visual analog scale score, translating in better quality of life. There were no complications. The clinical benefit persists at 5 years post surgery. CONCLUSION: Selected patients with posttraumatic hemidystonia, including following penetrating head injury, represent one group of secondary dystonias that might benefit from DBS surgery.

Hemidystonia - hemiatrophy syndrome in Domenico Morone's Madonna with child.

The authors present an image of the Madonna and Child painted by one of the less well-known Italian artists of the Renaissance. The appearance of the child in this work raises the question of whether his obvious physical deformities were deliberately portrayed as an empathic gesture toward children with disabilities. Various retrospective diagnoses of the child's condition are enumerated, one of which is considered more probable.

A prospective, randomized, blinded assessment of multitarget thalamic and pallidal deep brain stimulation in a case of hemidystonia.

OBJECTIVE: Dystonia is increasingly being interpreted as a multi-nodal "network" disorder. We aimed to investigate multitarget DBS (pallidal and thalamic) versus each target alone in a prospective, randomized, blinded trial in a case of hemidystonia secondary to putaminal stroke. METHODS: DBS leads were implanted in the GPi and Vim/Vop and each stimulation combination (GPi, Vim/Vop, and both) was tested for three months in a single patient. Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Short-Form 36 (SF-36) were completed at the end of each trial period. RESULTS: Multitarget (GPi+Vim/Vop) stimulation was clinically the most effective treatment and resulted in the most improvement in function and quality of life. The patient's hemidystonia improved by 25% as measured by the BFMDRS during the multitarget stimulation trial period and at the 6-month follow-up. The patient's quality of life improved by 86% and 59% during the multitarget stimulation trial period and at the 6 month follow-up respectively. CONCLUSION: Multitarget thalamic and pallidal DBS proved to be the most effective therapy for this patient with secondary hemidystonia due to a putaminal stroke. A single-lead approach may not be sufficient in neuromodulating a highly disorganized motor network seen in hemidystonia. Multitarget DBS should be further explored in post-stroke dystonia and may offer improved outcome in other forms of secondary dystonia with limited response to GPi DBS.