A5062307305- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Porphyrin Metabolism and Disorders
- Cerebrovascular and genetic disorders
- Adolescent and Pediatric Healthcare
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- RNA modifications and cancer
- RNA Research and Splicing
- Epilepsy research and treatment
- Folate and B Vitamins Research
- ATP Synthase and ATPases Research
- Endoplasmic Reticulum Stress and Disease
- Botulinum Toxin and Related Neurological Disorders
- Autophagy in Disease and Therapy
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Bipolar Disorder and Treatment
Hospital Sant Joan de Déu Barcelona
2015-2025
Institut de Recerca Sant Joan de Déu
2023-2025
Centre for Biomedical Network Research on Rare Diseases
2017-2025
Sant Joan de Déu Research Foundation
2024
ERN-RND
2022
Forschungszentrum Jülich
2022
RWTH Aachen University
2022
Université Libre de Bruxelles
2022
Instituto de Salud Carlos III
2019-2022
Universitat de Barcelona
2013-2021
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, phenotypic spectrum STXBP1-related disorders is wide and clear correlations between variant type clinical features have not been observed so far. Here, we harmonized data across 534 individuals with analysed 19 973 derived terms, including phenotypes 253 previously unreported scientific literature. The overall landscape characterized by abnormalities 95% seizures 89%...
The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis humans. Mn levels plasma urine useful tools for early recognition of these disorders. We aimed explore further biomarkers deposition the central nervous system two siblings presenting with acute dystonia hypermanganesemia due mutations SLC39A14. These may help clinicians establish faster accurate diagnosis monitor disease progression after chelation therapy is administered. A customized...
Friedreich ataxia (FRDA) is an autosomal recessive with no approved treatments. Leriglitazone a selective peroxisome proliferator-activated receptor γ agonist that crosses the blood-brain barrier and, in preclinical models, improved mitochondrial function and energy production. We assessed effects of leriglitazone patients FRDA proof-of-concept study.In this double-blind, randomized controlled trial, eligible participants (age 12-60 years) had genetically confirmed FRDA, Scale for Assessment...
OBJECTIVE The purpose of this study was to verify the safety and accuracy Neuromate stereotactic robot for use in deep brain stimulation (DBS) electrode implantation treatment hyperkinetic movement disorders childhood describe authors’ initial clinical results. METHODS A prospective evaluation pediatric patients with dystonia other carried out during 1st year after start-up a DBS unit Barcelona. Electrodes were implanted bilaterally globus pallidus internus (GPi) using without frame. authors...
Abstract Background Parkinsonism in infancy is rare and highly correlated with the presence of dystonia. Advances treating characterizing developmental infantile degenerative parkinsonism have highlighted need for a specialized assessment scale. Objective The aim this study was to design validate scale that effectively assesses parkinsonism‐dystonia early life. Methods Infantile Parkinsonism‐Dystonia Rating Scale (IPDRS) designed capture key clinical features It consists 28 items across...
Abstact FBXO7 is implicated in the ubiquitin–proteasome system and parkin‐mediated mitophagy. FBXO7defects cause a levodopa‐responsive parkinsonian‐pyramidal syndrome(PPS). Methods: We investigated disease molecular bases child with PPS brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) mutation was identified spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, deposition. Patient’s fibroblasts assays demonstrated an absence of...
ABSTRACT Background Pantothenate kinase‐associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design pilot‐test disease‐specific clinical rating scale for the assessment patients with pantothenate neurodegeneration. Methods In international cross‐sectional study, were examined at referral centers following standardized protocol. motor examination filmed, allowing 3 independent specialists movement...
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics large cohort pediatric MD patients (n = 95) with definitive diagnosis, giving special emphasis on clinical muscle involvement, biochemical histopathological features. Of whole cohort, 51 harbored mutations in nuclear DNA (nDNA) genes 44 had mitochondrial (mtDNA) genes. The nDNA were more likely to have reduction fiber succinate...
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia cerebellar atrophy (CA), many of them showing signs neurodegeneration brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible abnormal deposits known. The were evaluated using standardised assessments and MDs. First, analysed by Sanger sequencing 59 achieved a diagnosis, including the detection founder mutation PANK2 p.T528M in Romani people. Then, we used custom...
Despite the growing interest and potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal was to report plasma values in cohort Friedreich's ataxia (FRDA) patients during long-term follow-up. Taking advantage this, we also assessed cardiological neurological status together with genetic background. Long-term follow-up retrospective study 27 FRDA disease onset at paediatric age treated by compassionate use....
Dear Editor, Aicardi–Goutières syndrome (AGS) was initially described as an early-onset progressive encephalopathy with severe neurological symptoms, acquired microcephaly, basal ganglia calcification, leukoencephalopathy, cerebral atrophy and chronic cerebrospinal fluid (CSF) pleocytosis [1]. Subsequently, autoinflammatory systemic manifestations (e.g. recurrent sterile fevers, chilblain-like lesions, hepatitis) elevated CSF IFN-α activity were also reported Nine genes that encode proteins...