Tau seeding activity in skin biopsy differentiates tauopathies from synucleinopathies.

Most neurodegenerative diseases lack definitive diagnostic tests, and the identification of easily accessible and reliable biomarkers remains a critical unmet need. Since tau protein is highly expressed in skin of tauopathies patients, we aimed to exploit the ultrasensitive seeding activity assay (SAA) to assess tau seeding activity in skin of patients with tauopathies. In this multicentric, case-control study, patients with tauopathies and synucleinopathies were consecutively recruited and sex-matched to healthy controls (HC).

Slow wave activity across sleep-night could predict levodopa-induced dyskinesia.

A disruption in the slow wave activity (SWA) mediated synaptic downscaling process features Parkinson's disease (PD) patients presenting levodopa-induced dyskinesia (LID). To corroborate the role of SWA in LID development, 15 PD patients with LID, who underwent a polysomnography before LID's appearance, were included. Slow wave sleep epochs were extracted, combined and segmented into early and late sleep.

Tau protein quantification in skin biopsies differentiates tauopathies from alpha-synucleinopathies.

Abnormal accumulation of microtubule-associated protein tau (τ) is a characteristic feature of atypical parkinsonisms with tauopathies, such as progressive supranuclear palsy and corticobasal degeneration. However, pathological τ has also been observed in α-synucleinopathies like Parkinson's disease and multiple system atrophy. Based on the involvement of the peripheral nervous system in several neurodegenerative diseases, we characterized and compared τ expression in skin biopsies of patients clinically diagnosed with Parkinson's disease, multiple system atrophy, progressive supranuclear palsy and corticobasal degeneration and in healthy control subjects.

Impairment of sleep homeostasis in cervical dystonia patients.

Alterations in brain plasticity seem to play a role in the pathophysiology of cervical dystonia (CD). Since evidences indicate that sleep regulates brain plasticity, we hypothesized that an alteration in sleep homeostatic mechanisms may be involved in the pathogenesis of CD. We explored sleep in control subjects (CTL) and CD patients before (T) and after (T) botulinum toxin (BoNT) treatment.

Alpha-synuclein oligomers and small nerve fiber pathology in skin are potential biomarkers of Parkinson's disease.

The proximity ligation assay (PLA) is a specific and sensitive technique for the detection of αSyn oligomers (αSyn-PLA), early and toxic species implicated in the pathogenesis of PD. We aimed to evaluate by skin biopsy the diagnostic and prognostic capacity of αSyn-PLA and small nerve fiber reduction in PD in a longitudinal study. αSyn-PLA was performed in the ankle and cervical skin biopsies of PD (n = 30), atypical parkinsonisms (AP, n = 23) including multiple system atrophy (MSA, n = 12) and tauopathies (AP-Tau, n = 11), and healthy controls (HC, n = 22).

Rare neurovascular conflict between oculomotor nerve and posterior communicating artery.

Paroxysmal diplopia could be the expression of a multitude of clinical or anatomical conditions. Both ophthalmological and neurological pathologies could be responsible of this symptom. Rarely, a neurovascular conflict involving the oculomotor nerve is the etiology.

Neurologic complications of acute hepatitis E virus infection.

Objective: To assess the prevalence and clinical features of neurologic involvement in patients with acute hepatitis E virus (HEV) infection in Southern Switzerland.

Methods: Among 1,940 consecutive patients investigated for acute hepatitis E, we identified 141 cases of acute of HEV infection (anti-HEV immunoglobulin M and immunoglobulin G both reactive and/or HEV RNA positive) between June 2014 and September 2017. Neurologic cases were followed up for 6 months.

Outcome of endovascular therapy in stroke with large vessel occlusion and mild symptoms.

Objective: To compare outcomes after endovascular therapy (EVT) and IV thrombolysis (IVT) in patients with stroke with emergent large vessel occlusion (LVO) and mild neurologic deficits.

Methods: This was a retrospective analysis of patients from the Swiss Stroke Registry with admission NIH Stroke Scale score ≤5 and LVO treated by EVT (± IVT) vs IVT alone. The primary endpoint was favorable functional outcome (modified Rankin Scale [mRS] score 0-1) at 3 months.

Cervical skin denervation associates with alpha-synuclein aggregates in Parkinson disease.

Objective: Autonomic nervous system is involved at the onset of Parkinson disease (PD), and alpha-synuclein (-Syn) and its phosphorylated form (p-Syn) have been detected in dermal autonomic nerve fibers of PD. We assessed disease specific conformation variant of -Syn immunoreactivity in cutaneous nerves and characterized skin denervation patterns in PD and atypical parkinsonism (AP).

Methods: We enrolled 49 subjects, 19 with PD, 17 age-matched healthy controls, and 13 with AP.

Levodopa-induced dyskinesia in Parkinson disease: Sleep matters.

Objective: The spectrum of clinical symptom changes during the course of Parkinson disease (PD). Levodopa therapy, while offering remarkable control of classical motor symptoms, causes abnormal involuntary movements as the disease progresses. This levodopa-induced dyskinesia (LID) has been associated with abnormal cortical plasticity.

Polysomnographic record and successful management of augmentation in restless legs syndrome/Willis-Ekbom disease.

Background: Dopamine agonists (DAs) represent the first-line treatment in restless legs syndrome (RLS); however, in the long term, a substantial proportion of patients will develop augmentation, which is a severe drug-related exacerbation of symptoms and the main reason for late DA withdrawal. Polysomnographic features and mechanisms underlining augmentation are unknown. No practice guidelines for management of augmentation are available.

Chronic inflammatory lumbosacral polyradiculopathy: a regional variant of CIDP.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) affects various components and segments of the peripheral nervous system differently, and thus there can be phenotypic heterogeneity. We report a 47-year-old woman with chronic sensory disturbances and proximal weakness limited to the legs. Motor and sensory nerve conduction studies were normal.

Diffusion-weighted imaging in acute demyelinating myelopathy.

Introduction: Diffusion-weighted imaging (DWI) has become a reference MRI technique for the evaluation of neurological disorders. Few publications have investigated the application of DWI for inflammatory demyelinating lesions. The purpose of the study was to describe diffusion-weighted imaging characteristics of acute, spinal demyelinating lesions.

Chronic deep brain stimulation in mesial temporal lobe epilepsy.

The objective of this study was to evaluate the efficiency and the effects of changes in parameters of chronic amygdala-hippocampal deep brain stimulation (AH-DBS) in mesial temporal lobe epilepsy (TLE). Eight pharmacoresistant patients, not candidates for ablative surgery, received chronic AH-DBS (130 Hz, follow-up 12-24 months): two patients with hippocampal sclerosis (HS) and six patients with non-lesional mesial TLE (NLES). The effects of stepwise increases in intensity (0-Off to 2 V) and stimulation configuration (quadripolar and bipolar), on seizure frequency and neuropsychological performance were studied.

Tolerability and acceptance of prolonged low/delayed mitoxantrone regimens in patients with worsening multiple sclerosis.

Background: Severe side effects such as cardiotoxicity and leukemia limit long-term use of mitoxantrone (MTX) despite its recommendation in patients with malignant forms of relapsing remitting (RR) and secondary progressive (SP) multiple sclerosis (MS).

Methods: We analyzed data on tolerability, measured as compliance with the treatment, and patients' acceptance of an alternative MTX treatment schedule in 12 patients with aggressive RRMS or SPMS treated for at least 3 years with low/delayed dose MTX.

Results: Twelve patients received 9-17 cycles of MTX treatment, with individual median doses of 7.