Search Results (5)

Axial truncal dystonia can present as either flexion or extension, often with a tendency toward lateral movement. Flexion dystonia is more common and may represent a clinical spectrum associated with parkinsonism. In contrast, extensor trunk dystonia is less frequent and exhibits a diverse range of causes. In this paper, we reviewed the literature on axial extensor trunk dystonia. We identified 11 studies involving 49 patients, of which only 10 had idiopathic trunk dystonia. Treatment with botulinum neurotoxin A (BoNT/A) emerged as the most effective therapy; however, many studies did not provide detailed descriptions of the treatment (4/11) and follow-up periods were not specified or short term (up to one–two years). We present four new, well-documented patients with the idiopathic form of extensor trunk dystonia who were treated with BoNT/A with moderate to significant effect according to Global Clinical Impression scale (GCI) and Burke-Fahn-Marsden (BFM) dystonia scale. These cases include long-term follow-up for three patients, all without any adverse events. While the diagnostic process and treatment can be challenging, we recommend using BoNT/A with adjusted doses tailored to the appropriate muscle groups as a first-line treatment. Full article

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

Opisthotonus refers to abnormal axial extension and arching of the trunk produced by excessive contractions of the paraspinal muscles. In childhood, the abnormal posture is most often related to dystonia in the setting of hypoxic injury or a number of other acquired and genetic etiologies. The condition is often painful, interferes with ambulation and quality of life, and is challenging to treat. Therapeutic options include oral benzodiazepines, oral and intrathecal baclofen, botulinum neurotoxin injections, and deep brain stimulation. Management of opisthotonus within the pediatric population has not been systematically reviewed. Here, we describe a series of seven children who presented to our institution with opisthotonus in whom symptom relief was achieved following administration of botulinum neurotoxin injections. Full article

The last 15 years have seen the progressive introduction of deep-brain stimulation (DBS) for the treatment of Parkinson’s disease. This advance has been possible thanks to better understanding of the organisation of the basal ganglia with parallel segregated loops involved in the control of movement, behaviour, mood and cognition that interact through interneurons or collateral projections. Deep-brain stimulation, which allows by stimulation adjustments to optimise the benefit/side effect ratio, has made possible bilateral treatments needed for treating Parkinson’s disease, while former available lesions were contraindicated because of the substantial side effects they produced. Thalamic ventral intermediate nucleus was the first target. It affects the cerebello-thalamo-cortical pathway and is mainly effective on tremor with little benefit on the other signs of Parkinson’s disease. For Parkinson’s disease it has progressively completely been replaced by the two other targets and is currently mainly used to treat medication-resistant essential tremor. Internal posterior part of globus pallidus acts on the common output nucleus of the basal ganglia loops. It has been proven very effective for treating motor fluctuations, mainly dyskinesia. Its effects on motor signs of Parkinson’s disease are moderate and variably observed probably secondary to the organization of this relatively large nucleus, with deep-brain stimulation effects depending upon precise localisation. Globus pallidus deep-brain stimulation does not allow antiparkinsonian medication reduction, in contrast to subthalamic deep-brain stimulation, but necessitates a progressive increase of drugs, with some decrease in efficacy with time. Globus pallidus being very effective on dyskinesia is currently rather used to treat other movement disorders, e.g. dystonia. Subthalamic deep-brain stimulation has become the main target for treating Parkinson’s disease. It is acting on the indirect pathway, correcting the subthalamic hyperactivity secondary to disinhibition following dopamine depletion in Parkinson’s disease. Subthalamic deep-brain stimulation improves the four major signs of Parkinson’s disease, with effects mimicking levodopa: response to levodopa challenge being one of the best predictive parameters of the response to subthalamic deep-brain stimulation. This treatment allows substantial antiparkinsonian drug reduction. The latter is the main responsible for dyskinesia reduction observed after subthalamic deep-brain stimulation. Subthalamic deepbrain stimulation effects are maintained for at least 5 years although increase in axial signs and dementia is observed with Parkinson’s disease progression. Beside the motor effects, deep-brain stimulation may induce acute or chronic neuro-behavioural changes. The former is probably secondary to direct effect on structures adjacent to the targeted nuclei or involvement of parallel basal ganglia circuitry. The latter, which develops over months or years, is possibly also related to medication changes, neuronal plasticity following deep-brain stimulation, adaptation difficulties and dramatic socio-familial modification induced by the motor effects of deep-brain stimulation. Depression, apathy, anxiety, mania, pathological gambling, sexual behaviours and hallucinations have all been described following deep-brain stimulation. These changes, which underline the importance of basal ganglia circuitry in mood and behaviour, may have severe consequences including suicides. If the acute effects can usually easily be corrected by deep-brain stimulation tuning, the chronic modifications need to be detected and often necessitate a multidisciplinary approach. This careful multidisciplinary (neurologist, neuropsy-chologist, neurosurgeon, psychiatrist) collaboration is important not only for the selection but also for the follow-up of Parkinson’s disease patients treated by deep-brain stimulation. Full article