Use of the MNCD Classification to Monitor Clinical Stage and Response to Levodopa-Entacapone-Carbidopa Intestinal Gel Infusion in Advanced Parkinson's Disease.

Background And Objective: Staging Parkinson's disease (PD) with a novel simple classification called MNCD, based on four axes (Motor; Non-motor; Cognition; Dependency) and five stages, correlated with disease severity, patients' quality of life and caregivers' strain and burden. Our aim was to apply the MNCD classification in advanced PD patients treated with device-aided therapy (DAT).

Patients And Methods: A multicenter observational retrospective study of the first patients to start the levodopa-entacapone-carbidopa intestinal gel (LECIG) in Spain was performed (LECIPARK study).

Artificial intelligence for identification of candidates for device-aided therapy in Parkinson's disease: DELIST-PD study.

Introduction: In Parkinson's Disease (PD), despite available treatments focusing on symptom alleviation, the effectiveness of conventional therapies decreases over time. This study aims to enhance the identification of candidates for device-aided therapies (DAT) using artificial intelligence (AI), addressing the need for improved treatment selection in advanced PD stages.

Methods: This national, multicenter, cross-sectional, observational study involved 1086 PD patients across Spain.

MRgFUS subthalamotomy in Parkinson's disease: an approach aimed at minimizing Lesion Volume.

Idiopathic Parkinson's Disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, bradykinesia, and postural instability. Magnetic Resonance-guided high-intensity focused ultrasound (MRgFUS) of the subthalamic nucleus (STN) is gaining recognition as a minimally invasive surgical option. This study assesses the safety and efficacy of unilateral MRgFUS subthalamotomy, aiming to create the smallest effective lesion.

Effectiveness and safety of levodopa-entacapone-carbidopa infusion in Parkinson disease: A real-world data study.

Background And Purpose: Levodopa-entacapone-carbidopa intestinal gel (LECIG) infusion is a recently developed device-aided therapy for advanced Parkinson disease (PD) patients. The aim of this study was to report real-world evidence about the effectiveness, tolerability, and safety of LECIG in PD patients.

Methods: A multicenter observational retrospective study of the first patients who initiated LECIG in Spain was performed.

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Background: Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.

Objectives: We aimed to further investigate the molecular background of patients with SCA8 diagnosis.

Combined subthalamic nucleus and globus pallidus internus deep brain stimulation in Parkinson's disease.

Introduction: Subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation (DBS) are the main surgical approaches for advanced Parkinson's disease. Stimulation is usually applied bilaterally in the same brain structure. However, when various motor symptoms concomitantly present in the same patient, simultaneous modulation of different brain structures may be a suitable alternative.

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Background: Autosomal dominant spinocerebellar ataxia 36 (SCA36) is caused by hexanucleotide repeat expansion in the gene.

Objectives: To assess frequency, clinical and genetic features of SCA36 in Eastern Spain.

Methods: expansion was tested in a cohort of undiagnosed cerebellar ataxia families (n = 84).

Staging Parkinson's Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life.

Background: Recently, a novel simple classification called MNCD, based on 4 axes (Motor; Non-motor; Cognition; Dependency) and 5 stages, has been proposed to classify Parkinson's disease (PD).

Objective: Our aim was to apply the MNCD classification in a cohort of PD patients for the first time and also to analyze the correlation with quality of life (QoL) and disease severity.

Methods: Data from the baseline visit of PD patients recruited from 35 centers in Spain from the COPPADIS cohort fromJanuary 2016 to November 2017 were used to apply the MNCD classification.

Gait Function after High-Intensity Focused Ultrasound Thalamotomy for Essential Tremor: Searching for Technique Optimization.

Introduction: Essential tremor (ET) is one of the most prevalent movement disorders in adults and may be highly disabling for some. Magnetic resonance image-guided high-intensity focused ultrasound (MRIgFUS) has been shown to control tremor efficaciously and with acceptable risk. To date, paresthesia and ataxia are the most common adverse effects (AE).

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Background And Objectives: To determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain.

Methods: A total of 130 unrelated patients with CA, negative for common trinucleotide repeat expansions (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, dentatorubral pallidoluysian atrophy [DRPLA], and Friedreich ataxia), were studied with CES. Bioinformatic and genotype-phenotype analyses were performed to assess the pathogenicity of the variants encountered.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs.

The Protective Role of pVHL in Imiquimod-Induced Psoriasis-like Skin Inflammation.

Psoriasis is a chronic inflammatory disease distinguished by an excessive proliferation and abnormal differentiation of keratinocytes. Immune cells, such as T lymphocytes and neutrophils, and inflammatory cytokines, such as Tumor Necrosis Factor-α (TNF-α) and interleukin 17 (IL-17), are essential for maintaining psoriatic lesions. Additionally, a hypoxic milieu present in the skin promotes the expression of transcriptional factor hypoxia-inducible factor-1 alpha (HIF-1α).

[Adverse effects and complications of continuous intestinal infusion of levodopa-carbidopa in a cohort of patients with Parkinson's disease in a tertiary hospital].

Introduction: Continuous intestinal infusion of levodopa/carbidopa is a second-line treatment indicated in advanced stages of Parkinson's disease (PD). For its implantation, a percutaneous endoscopic gastrostomy must be performed.

Objectives: The main objective has been to describe the frequency and characteristics of the side effects associated with this treatment.

MNCD: A New Tool for Classifying Parkinson's Disease in Daily Clinical Practice.

: Parkinson's disease (PD) is a clinically heterogeneous disorder in which the symptoms and prognosis can be very different among patients. We propose a new simple classification to identify key symptoms and staging in PD. : Sixteen movement disorders specialists from Spain participated in this project.

The Extracellular Vesicles from the Commensal Staphylococcus Epidermidis ATCC12228 Strain Regulate Skin Inflammation in the Imiquimod-Induced Psoriasis Murine Model.

Extracellular vesicles (EVs) are evaginations of the cytoplasmic membrane, containing nucleic acids, proteins, lipids, enzymes, and toxins. EVs participate in various bacterial physiological processes. interacts and communicates with the host skin.

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients.

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.

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.

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD.

Transcranial sonography in atypical parkinsonism: How reliable is it in real clinical practice? A multicentre comprehensive study.

Introduction: Substantia nigra hyperechogenicity (SN+) in transcranial sonography (TCS) is frequent in Parkinson's disease (PD), while lenticular nucleus hyperechogenicity (LN+) and 3rd ventricle enlargement (3V+) are typical of Atypical Parkinsonisms (AP). However, there are no studies assessing the diagnostic yield of all TCS biomarkers in the three AP (progressive supranuclear palsy, PSP, multiple system atrophy, MSA, corticobasal degeneration, CBD). Previous references lack homogeneous criteria and data are incomprehensive.