Gorka Fernández‐Eulate
A5089516815- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Cardiomyopathy and Myosin Studies
- Glycogen Storage Diseases and Myoclonus
- Amyotrophic Lateral Sclerosis Research
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- DNA Repair Mechanisms
- Parkinson's Disease Mechanisms and Treatments
- Cerebrovascular and Carotid Artery Diseases
- Nuclear Structure and Function
- RNA modifications and cancer
- Nutrition and Health in Aging
- Cholesterol and Lipid Metabolism
- Autophagy in Disease and Therapy
- Diet and metabolism studies
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Metabolism and Genetic Disorders
- Acute Ischemic Stroke Management
- Cellular transport and secretion
- Ophthalmology and Eye Disorders
- Fibromyalgia and Chronic Fatigue Syndrome Research
Pitié-Salpêtrière Hospital
2020-2025
Sorbonne Université
2020-2025
Assistance Publique – Hôpitaux de Paris
2020-2025
Institut de Myologie
2020-2024
Biogipuzkoa Health Research Institute
2018-2024
Osakidetza
2019-2024
Inserm
2022-2024
Institut Necker Enfants Malades
2022-2024
Université Paris Cité
2022-2024
University College London
2023
Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as marker of 13 neurodegenerative disorders, Down syndrome, depression and cognitively unimpaired controls from two multicenter cohorts: King's College London (n = 805) the Swedish BioFINDER study 1,464). Plasma was significantly increased all cortical amyotrophic lateral sclerosis atypical parkinsonian disorders. We...
BackgroundFibromyalgia is a complex, relatively unknown disease characterised by chronic, widespread musculoskeletal pain. The gut-brain axis connects the gut microbiome with brain through enteric nervous system (ENS); its disruption has been associated psychiatric and gastrointestinal disorders. To gain an insight into pathogenesis of fibromyalgia identify diagnostic biomarkers, we combined different omics techniques to analyse serum composition.MethodsWe collected faeces blood samples...
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited manifesting with ptosis, dysphagia and distal weakness. Pathologically it characterised by rimmed vacuoles intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified OPDM individuals Asian populations. None of these have been found affected non-Asian ancestry. this study we describe the identification expansions ABCD3 , ranging from 118 to 694 repeats, 35 across...
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary phenotype associated with classical features of mitochondrial diseases, including ataxia, progressive external ophthalmoplegia, and deletions DNA.To better characterize disease clinical, genetic, functional analysis Spanish cohort patients.Genetic was performed patients suspecting 1 patient parkinsonism Pisa syndrome, through next-generation sequencing, whole-exome targeted Sanger multiplex...
Ataxia and cough are rare features in hereditary sensory autonomic neuropathies (HSAN), a group of diseases mostly unknown genetic cause. Biallelic repeat expansions RFC1 associated with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). This study aimed to investigate the prevalence cohort HSAN patients.After unremarkable whole-exome sequencing (WES) analysis, we performed repeat-primed PCR detect intronic 12 families, who all presented chronic cough.In these patients,...
Objective: To perform a comprehensive lipid profiling to evaluate potential metabolic differences between patients with amyotrophic lateral sclerosis (ALS) and controls, provide more profound understanding of the abnormalities in ALS. Methods: Twenty ALS 20 healthy controls were enrolled cross-sectional study. Untargeted lipidomics fasting serum samples performed by optimized UPLC-MS platforms for broad lipidome coverage. Datasets analyzed univariate variety multivariate procedures. Results:...
Aging CellVolume 24, Issue 1 e14480 ADDITIONAL COVEROpen Access Additional Cover Nathalie Launay, LaunaySearch for more papers by this authorMaria Espinosa-Alcantud, Maria Espinosa-AlcantudSearch authorEdgard Verdura, Edgard VerduraSearch authorGorka Fernández-Eulate, Gorka Fernández-EulateSearch authorJon Ondaro, Jon OndaroSearch authorPablo Iruzubieta, Pablo IruzubietaSearch Marsal, MarsalSearch authorAgatha Schlüter, Agatha SchlüterSearch authorMontserrat Ruiz, Montserrat RuizSearch...
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, full genotype-phenotype spectrum and progression remain to be defined. Notably, a multicenter phase 2/3 study test efficacy govorestat (NCT05397665), new aldose reductase inhibitor, is currently ongoing. Diagnosing CMT-SORD will become imperative when disease-modifying therapies available. In this cross-sectional multicentre...
<h3>Background and Objectives</h3> Spinal muscular atrophy (SMA) is mainly caused by homozygous <i>SMN1</i> gene deletions on 5q13. Non-5q SMA patients' series are lacking, the diagnostic yield of next-generation sequencing (NGS) largely unknown. The aim this study was to describe clinical genetic landscape non-5q evaluate performance neuropathy panels in these disorders. <h3>Methods</h3> Description patients with followed different neuromuscular reference centers France as well London,...
Abstract Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) whole‐genome (WGS) were performed using patient's DNA sample. RT‐PCR cDNA Sanger on RNA extracted from fibroblasts, as well western blot. Results A novel missense variant SPG7 (c.2195T> C; p.Leu732Pro) was first found whole‐exome (WES), while the second, also unreported, deep intronic (c.286 + 853A>G) identified (WGS). confirmed silico...
Background and purpose To describe a large series of patients with α, β, γ sarcoglycanopathies (LGMD‐R3, R4, R5) study phenotypic correlations disease progression. Methods A multicentric retrospective in four centers the Paris area collecting neuromuscular, respiratory, cardiac, histologic, genetic data. The primary outcome progression was age loss ambulation (LoA); severity established according to LoA before or after 18 years age. Time‐to‐event analysis performed. Results One hundred (54...
Abstract Background To describe the clinical, pathological, and molecular characteristics of late‐onset (LO) dysferlinopathy patients. Methods Retrospective series patients with LO dysferlinopathy, defined by an age at onset symptoms ≥30 years, from neuromuscular centers in France International Clinical Outcome Study for (COS). Patients early‐onset (EO) (<30 years) were randomly selected COS study as a control group, North Star Assessment Dysferlinopathy (NSAD) Activity Limitation...
Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain 2019.We conducted a cross-sectional, multicentre, retrospective, descriptive study patients with ataxia between March 2018 December gathered data from total 1933 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age our sample was 53.64 (20.51) years; 938 were men (48.5%) 995 women (51.5%). The genetic defect...
Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such Charcot-Marie-Tooth disease type 2 (CMT2) and distal motor neuropathy (dHMN) resulting lower limb (LL) weakness muscular atrophy. In this study, phenotype genotype landscapes SORD-related were described a French Swiss cohort. Serum sorbitol dosages used to classify variants.Patients followed at neuromuscular reference centres France Switzerland ascertained. Sanger...
Aging is a universal and complex process that affects all tissues cells types, including immune cells, in known as immunosenescence.However, many aspects of immunosenescence are not completely understood, the characteristics nonagenarians centenarians or features implications extracellular vesicles (EVs).In this study, we analyzed blood samples from 51 individuals aged 20-49 70-104 years.We found senescent CD8 accumulate with age, while there partial reduction CD4 centenarians.Moreover,...
Abstract Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as marker of fifteen neurodegenerative diseases from two multicenter cohorts: King’s College London (n = 847) and the Swedish BioFINDER study 1464). Plasma was significantly increased all cortical disorders, amyotrophic lateral sclerosis atypical parkinsonian disorders. We further demonstrate clinically useful...
Abstract Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal 3 (MMD3), pseudometabolic myopathy or asymptomatic hyperCKaemia. In this retrospective, observational, multicentre study we gathered a large European cohort of patients with ANO5-related to genetic spectrum genotype–phenotype correlations. We included 234 from 212 different...
Abstract Amyotrophic Lateral Sclerosis (ALS) is a multisystemic neurodegenerative disorder, with accumulating evidence indicating metabolic disruptions in the skeletal muscle preceding disease symptoms, rather than them manifesting as secondary consequence of motor neuron (MN) degeneration. Hence, energy homeostasis deeply implicated complex physiopathology ALS and has emerged key therapeutic target. Here, we describe intrinsic abnormalities muscle, both patient-derived cells cell lines...