Sensitization-Associated Symptoms and Neuropathic-like Features in Patients with Cervical Dystonia and Pain.

This exploratory study evaluated the presence of sensitization-associated and neuropathic-like symptoms and identified their association with pressure sensitivity, pain, and disability in patients with cervical dystonia (CD). Thirty-one patients with CD (74.2% women, age: 61.

Four-tract probabilistic tractography technique for target selection in essential tremor treatment with magnetic resonance-guided focused ultrasound.

Objectives: Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is a novel, minimally invasive ablative treatment for essential tremor (ET). The use of a four-tract probabilistic tractography technique, targeting the intersection between the dentato-rubro-thalamic tracts (both decussating and non-decussating), while evaluating the corticospinal tract and the medial lemniscus, may obtain immediate clinical results with reduced adverse events. Our aim is to present our experience with the four-tract technique for patients undergoing ET treatment with MRgFUS.

Striatal and thalamic automatic segmentation, morphology, and clinical correlates in Parkinsonism: Parkinson's disease, multiple system atrophy and progressive supranuclear palsy.

Parkinson's disease (PD), multisystem atrophy (MSA), and progressive supranuclear palsy (PSP) present similarly with bradykinesia, tremor, rigidity, and cognitive impairments. Neuroimaging studies have found differential changes in the nigrostriatal pathway in these disorders, however whether the volume and shape of specific regions within this pathway can distinguish between atypical Parkinsonian disorders remains to be determined. This paper investigates striatal and thalamic volume and morphology as distinguishing biomarkers, and their relationship to neuropsychiatric symptoms.

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Objective: We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.

Methods: A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing.

Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2.

Introduction: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus.

Objectives: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients.

Sexual Dysfunction in Early-Onset Parkinson's Disease: A Cross-Sectional, Multicenter Study.

Background: Sexual dysfunction (SD) is one of the least studied non-motor symptoms in Parkinson's disease (PD).

Objectives: To assess sexual function in a cohort of patients with early-onset PD (EOPD) and compare it to a group of healthy controls.

Methods: In this cross-sectional multicenter study, SD was assessed with gender-specific multi-dimensional self-reported questionnaires: The Brief Male Sexual Function Inventory (BSFI-M) and the Female Sexual Function Index (FSFI).

Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1.

Introduction: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future.

Objectives: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients.

Management of neurological care during the COVID-19 pandemic.

Introduction: The COVID-19 epidemic has led to the need for unprecedented decisions to be made to maintain the provision of neurological care. This article addresses operational decision-making during the epidemic.

Development: We report the measures taken, including the preparation of a functional reorganisation plan, strategies for hospitalisation and emergency management, the use of telephone consultations to maintain neurological care, provision of care at a unit outside the hospital for priority patients, decisions about complementary testing and periodic in-hospital treatments, and the use of a specific telephone service to prioritise patients with epileptic seizures.

The high prevalence of impulse control behaviors in patients with early-onset Parkinson's disease: A cross-sectional multicenter study.

Introduction: In Parkinson's disease patients, impulse control disorders (ICDs) have been associated with younger age and early disease onset, yet the prevalence of ICDs in early-onset Parkinson's disease (EOPD) patients has yet to be studied. Thus, we set out to compare the prevalence of impulse control behaviors (ICBs) in a cohort of EOPD patients with that in age and gender matched healthy controls (HCs), as well as to analyze the association of these symptoms with the use of dopaminergic drugs and other clinical or demographic factors.

Methods: A cross-sectional, multicenter study was carried out on patients recruited from outpatient Movement Disorder Clinics, assessing ICBs using the short form of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP).

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

Background: A recent genome-wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five single nucleotide polymorphisms (SNPs) previously reported with high signals as putative genetic risk factors for cervical dystonia in a British GWAS, including two located in the NALCN gene region.

In vivo gastric detection of α-synuclein inclusions in Parkinson's disease.

α-Synuclein inclusions have been identified in the brain and some parts of the enteric nervous system in Parkinson's disease cases. We aimed to assess these inclusions in gastric mucosa samples from patients with symptomatic Parkinson's disease. Random biopsies were performed by gastroscopy in 28 patients with Parkinson's disease and in 29 age- and sex-matched controls.

BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis.

Background: A polymorphism in brain-derived neurotrophic factor (BDNF) (Val66Met) has been reported as a risk factor in primary dystonia. However, overall the results have been inconclusive. Our aim was to clarify the association of Val66Met with primary dystonia, and with the most prevalent clinical subtypes, cervical dystonia and blepharospasm.

Levodopa infusion improves impulsivity and dopamine dysregulation syndrome in Parkinson's disease.

Background: Impulsivity and dopamine dysregulation syndrome are frequent complications of treatment in Parkinson's disease (PD).

Methods: We assessed the effect of jejunal levodopa infusion (JLI) on behavioral symptoms in 8 PD patients with motor complications and severe impulsivity and dopamine dysregulation syndrome (DDS), which had not be controlled before by adjusting oral medications. The infusion was delivered during 15 hours (daily dose 1007.

The social impact of Parkinson's disease in Spain: Report by the Spanish Foundation for the Brain.

Introduction: Understanding the social and economic impact of Parkinson's disease is essential for resource planning and raising social awareness.

Development: Researchers reviewed the data published to date on epidemiology, morbidity and mortality, dependency, and economic impact of Parkinson's disease in Spain. In addition, a study has been carried out in order to define the public and private health care resources of Spanish patients affected by Parkinson's disease by means of an e-mail survey of all neurologists specialising in this disease and belonging to the Spanish Society of Neurology's study group for movement disorders.

On the diagnosis of CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic arteriopathy related to Notch3 mutations, is difficult to diagnosis. The goal of this study was to determine the value of clinical, immunohistochemical, and molecular techniques for the diagnosis of CADASIL. Clinical features and the immunohistochemical and molecular findings in 200 subjects with suspected CADASIL in whom 93 biopsies and 190 molecular studies are reported.

[Galantamine therapy in dementia associated with CADASIL].

Introduction: Cholinergic neuronal impairment has been suggested in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencefalopathy (CADASIL). Cholinomimetic therapy could be useful.

Case Reports: Four patients with CADASIL and dementia were treated with the acetylcholinesterase inhibitor galantamine and we assessed cognitive, behavioral, functional and the caregiver burden aspects.

[Lymphomatosis cerebri as the cause of leukoencephalopathy].

Introduction: Lymphomatosis cerebri (LC) is an infrequent type of primary lymphoma of the central nervous system that is characterised by diffuse, infiltrating involvement of the white matter of the brain without the formation of a mass.

Aim: To report the case of a patient with LC in order to draw attention to this disease, which is rarely diagnosed, and to its initial presentation in magnetic resonance imaging (MRI) as leukoencephalopathy.

Case Report: Our patient was a 56-year-old female who had clinical signs and symptoms of sub-acute dementia.