Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies.

Importance: Finding a reliable diagnostic biomarker for the disorders collectively known as synucleinopathies (Parkinson disease [PD], dementia with Lewy bodies [DLB], multiple system atrophy [MSA], and pure autonomic failure [PAF]) is an urgent unmet need. Immunohistochemical detection of cutaneous phosphorylated α-synuclein may be a sensitive and specific clinical test for the diagnosis of synucleinopathies.

Objective: To evaluate the positivity rate of cutaneous α-synuclein deposition in patients with PD, DLB, MSA, and PAF.

The effects of treatment with pimavanserin on activities of daily living in patients with Parkinson's disease psychosis: a 16-week, single-arm, open-label study.

Background: More than half of patients with Parkinson's disease will experience psychosis symptoms in the form of hallucinations or delusions at some point over the course of their disease. These symptoms can significantly impact patients' health-related quality of life, cognitive abilities, and activities of daily living (ADLs) and function. Clinical assessment of how psychosis impacts these measures is crucial; however, few studies have assessed this sufficiently, in part due to a lack of appropriate scales for comprehensively assessing function.

X-Linked Dystonia-Parkinsonism ("Lubag") May Present with Peripheral Synucleinopathy.

Background: X-linked dystonia parkinsonism (XDP) or "Lubag" is a genetic dystonia syndrome observed among Filipinos that can present with levodopa-responsive parkinsonism and abnormal dopamine transporter (DAT) imaging.

Objective: The aim of this study is to describe the results of skin biopsies for phosphorylated α-synuclein (P-SYN) in XDP.

Method: This study used the retrospective chart review.

Direct targeting of the ventral intermediate nucleus of the thalamus in deep brain stimulation for essential tremor: a prospective study with comparison to a historical cohort.

Objective: The ventral intermediate nucleus of the thalamus (VIM) is an effective target for deep brain stimulation (DBS) to control symptoms related to essential tremor. The VIM is typically targeted using indirect methods, although studies have reported visualization of the VIM on proton density-weighted MRI. This study compares the outcomes between patients who underwent VIM DBS with direct and indirect targeting.

Thalamic Deep Brain Stimulation May Improve Restless Legs Syndrome in Patients With Essential Tremor.

Objectives: To determine change in restless legs syndrome (RLS) symptoms in essential tremor (ET) patients undergoing bilateral thalamic ventral intermedius (VIM) deep brain stimulation (DBS) surgery.

Materials And Methods: We retrospectively reviewed our database of ET patients with RLS who had undergone VIM DBS for tremor from 2012 to 2020. We reviewed the patients with available International Restless Leg Syndrome Study Group RLS scale scores before and after DBS.

Tardive Blepharospasm May Respond to Bilateral Pallidal Deep Brain Stimulation.

Background: To date, there have been no reports of tardive blepharospasm being treated with deep brain stimulation (DBS), though there have been two reports of focal blepharospasm responding favorably to bilateral pallidal DBS.

Case: A 34 year old man with tardive blepharospasm that was refractory to oral medications as well as botulinum toxin types A and B underwent bilateral pallidal DBS under general anesthesia. He had significant improvement of his severe blepharospasm by one and half months post-DBS which was sustained at last follow-up 30 months post-DBS.

Adductor Spasmodic Dysphonia Improves with Bilateral Thalamic Deep Brain Stimulation: Report of 3 Cases Done Asleep and Review of Literature.

Background: To date, there are only six published reports of adductor spasmodic dysphonia (SD) responding to awake thalamic deep brain stimulation (DBS).

Methods: We retrospectively reviewed cases of Essential Tremor (ET) with SD that were seen in our center from 2012 to 2020. We further identified those that have undergone thalamic DBS, and had a blinded laryngologist rate first the audio voice recordings before and after DBS using the Unified Spasmodic Dysphonia Rating Scale (USDRS), and the video recordings last to rate the related movements and facial grimacing.

Short-Lasting Unilateral Neuralgiform Headache With Conjunctival Injection and Tearing (SUNCT) Improves With Bilateral Ventral Tegmental Area Deep Brain Stimulation.

Background: Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) is a severe headache disorder characterized by clustered episodes of extreme pain. Refractory to most interventions, ipsilateral unilateral ventral tegmental area (VTA) deep brain stimulation (DBS) has been previously reported to be efficacious in 14 cases.

Methods And Results: Herein, we report the first case of an individual with medically refractory SUNCT who underwent bilateral VTA DBS.

Orthostatic Tremor is Responsive to Bilateral Thalamic Deep Brain Stimulation: Report of Two Cases Performed Asleep.

Background: Orthostatic tremor (OT) is a hyperkinetic movement disorder characterized by rapid tremor in the lower extremities or trunk upon standing.

Case Report: We report two patients presenting with OT, whose symptoms improved markedly following asleep bilateral thalamic deep brain stimulation (DBS) surgery.

Discussion: Medically refractory OT can respond favorably to asleep bilateral DBS surgery similar to awake surgery, and may have the advantages of less psychological trauma to the patient, shorter procedure times, and less exposure to anesthesia.

Intraoperative test stimulation versus stereotactic accuracy as a surgical end point: a comparison of essential tremor outcomes after ventral intermediate nucleus deep brain stimulation.

OBJECTIVE Ventral intermediate nucleus deep brain stimulation (DBS) for essential tremor is traditionally performed with intraoperative test stimulation and conscious sedation, without general anesthesia (GA). Recently, the authors reported retrospective data on 17 patients undergoing DBS after induction of GA with standardized anatomical coordinates on T1-weighted MRI sequences used for indirect targeting. Here, they compare prospectively collected data from essential tremor patients undergoing DBS both with GA and without GA (non-GA).

Parkinson's disease outcomes after intraoperative CT-guided "asleep" deep brain stimulation in the globus pallidus internus.

Objective: Recent studies show that deep brain stimulation can be performed safely and accurately without microelectrode recording ortest stimulation but with the patient under general anesthesia. The procedure couples techniques for direct anatomical targeting on MRI with intraoperative imaging to verify stereotactic accuracy. However, few authors have examined the clinical outcomes of Parkinson's disease (PD) patients after this procedure.

Botulinum toxin therapy for cervical dystonia: the science of dosing.

The first-line treatment for cervical dystonia (CD) is botulinum toxin type A (BoNT-A), which has been established as a highly effective and well-tolerated therapy. However, this treatment is also complex and challenging to apply in clinical practice. Approximately 20% of patients discontinue therapy due to treatment failure, adverse effects, and other reasons.

IncobotulinumtoxinA (Xeomin®) injected for blepharospasm or cervical dystonia according to patient needs is well tolerated.

Typically, botulinum toxin injections for blepharospasm or cervical dystonia (CD) are administered at approximately 3-month intervals, reflecting concerns that shorter intervals might increase the risk of adverse events (AEs) and development of neutralizing antibodies. These post-hoc analyses investigated flexible incobotulinumtoxinA (Xeomin®) injection intervals (6-20 weeks) in patients with blepharospasm or CD. Patients received up to 6 injections at intervals ≥ 6 weeks, as determined by physician assessment upon patient request.

A randomized, double-blind study of repeated incobotulinumtoxinA (Xeomin(®)) in cervical dystonia.

IncobotulinumtoxinA (Xeomin(®), NT 201), a preparation without accessory (complexing) proteins, has shown comparable efficacy and safety to onabotulinumtoxinA in treating cervical dystonia (CD). This study evaluated the efficacy and safety of repeated incobotulinumtoxinA injections in subjects with CD. Following a ≤20-week placebo-controlled, randomized, double-blind, single-dose main period, subjects could enter a ≤68-week prospective, randomized, double-blind, repeated-dose, flexible-interval (minimum 6 weeks) extension period with 240 U or 120 U of incobotulinumtoxinA (≤5 injections).

Efficacy and Safety of IncobotulinumtoxinA in Subjects Previously Treated with Botulinum Toxin Versus Toxin-Naïve Subjects with Cervical Dystonia.

Background: To determine whether botulinum toxin treatment history affected the outcomes of a study comparing the safety and efficacy of incobotulinumtoxinA with placebo in subjects with cervical dystonia (CD).

Methods: This was a prospective, double-blind, randomized, placebo-controlled, multicenter trial in botulinum toxin-treated or toxin-naïve CD subjects. Subjects received a fixed dose of either 120 U or 240 U of incobotulinumtoxinA or placebo.

Cerebellar Ataxia from Multiple Potential Causes: Hypothyroidism, Hashimoto's Thyroiditis, Thalamic Stimulation, and Essential Tremor.

Background: Both hypothyroidism and Hashimoto's thyroiditis (HT) can rarely be associated with cerebellar ataxia. Severe essential tremor (ET) as well as bilateral thalamic deep brain stimulation (DBS) may lead to subtle cerebellar signs.

Case Report: We report a 74-year-old male with hypothyroidism and a 20-year history of ET who developed cerebellar ataxia after bilateral thalamic DBS.

Orthostatic tremor responds to bilateral thalamic deep brain stimulation.

Background: Orthostatic tremor (OT) is a disabling movement disorder manifested by postural and gait disturbance. Primarily a condition of elderly people, it can be progressive in up to 15% of patients. The primary treatments are medications that are often ineffective.

Primary writing tremor responds to unilateral thalamic deep brain stimulation.

Primary writing tremor is a task associated tremor which occurs during and interferes with handwriting. Considered in most cases to be a nonprogressive disorder, a number of patients are significantly debilitated by the disease. The pathophysiology of the disorder is not fully understood, but felt to represent a variant of either essential tremor or dystonia versus a separate entity.

Bilateral globus pallidus internus deep brain stimulation in Parkinson's disease with periodic limb movement disorder.

Deep brain stimulation for Parkinson's disease is a well-established therapeutic intervention for refractory disease. The main nuclear targets are the subthalamic nucleus and the globus pallidus internus. Periodic limb movements are often an associated condition in patients with Parkinson's disease.

Long-term benefit of bilateral subthalamic deep brain stimulation on camptocormia in Parkinson's disease.

We report the case of a 63-year-old female with a long history of severe Parkinson's disease (PD) and subsequent onset of debilitating camptocormia who underwent successful bilateral subthalamic nucleus deep brain stimulation surgery (STN DBS). The literature and previous reports are reviewed. The patient history and details of the surgical procedure are reported including the implantable pulse generator (IPG) settings and response to stimulation.

Autonomic function, as self-reported on the SCOPA-autonomic questionnaire, is normal in essential tremor but not in Parkinson's disease.

Objective: To compare autonomic function of subjects with Parkinson's disease (PD) and essential tremor (ET) relative to controls.

Background: It has been reported that patients with PD have autonomic dysfunction while no literature exists regarding autonomic function in ET.

Methods: Subjects with PD, ET, and controls had autonomic function measured using the SCOPA-Autonomic questionnaire, with the total and domain scores transformed to a scale of 0-100 points.

Multichannel microelectrode recording influences final electrode placement in pallidal deep brain stimulation for Parkinson's disease: report of twenty consecutive cases.

Aim: Stereotactic placement of the permanent deep brain stimulating electrode can be based upon imaging guidance with or without microelectrode recordings (MER).

Material And Methods: We conducted a retrospective study of 20 PD patients who underwent bilateral pallidal DBS placement with MER. There were 14 males and 6 females.

Incidental Lewy body disease: electrophysiological findings suggesting pre-clinical Lewy body disorders.

Objective: Evaluate electrophysiologic findings in incidental Lewy body disease (ILBD).

Methods: ILBD, Control, and Parkinson's disease (PD) subjects had electrophysiological evaluation within 2 years prior to autopsy. Data analyzed included surface electromyography (EMG) of upper extremity muscles during rest and muscle activation, and electroencephalography (EEG) recording at rest.