A5011171361- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Trigeminal Neuralgia and Treatments
- Migraine and Headache Studies
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Botulinum Toxin and Related Neurological Disorders
- Neurological and metabolic disorders
- RNA regulation and disease
- Facial Nerve Paralysis Treatment and Research
- Dysphagia Assessment and Management
- Intracerebral and Subarachnoid Hemorrhage Research
- Sexual function and dysfunction studies
- Genetics and Neurodevelopmental Disorders
- Amyotrophic Lateral Sclerosis Research
- Myofascial pain diagnosis and treatment
- Medical research and treatments
- Cerebrovascular and Carotid Artery Diseases
- Esophageal and GI Pathology
- Neurological Disorders and Treatments
- Intracranial Aneurysms: Treatment and Complications
- Ophthalmology and Eye Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
Hospital General Universitario Gregorio Marañón
2016-2025
Centre for Biomedical Network Research on Rare Diseases
2024
Central University Hospital of Asturias
2019-2020
Hospital Universitario Fundación Alcorcón
2009-2013
University of Parma
1989-1990
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...
Abstract Background Defects in GNAO1 , the gene encoding major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain different phenotypes. Objectives We aimed analyze clinical phenotype characterization ‐related Methods Patients were recruited collaboration with Spanish Association. For patient phenotyping, direct evaluation, analysis homemade‐videos, an online...
Objective To describe the spectrum of neurological complications observed in a hospital-based cohort COVID-19 patients who required assessment. Methods We conducted an observational, monocentric, prospective study with diagnosis hospitalized during 3-month period first wave pandemic tertiary hospital Madrid (Spain). diagnoses that arose after onset symptoms. These could be divided into different groups. Results Only 71 (2.6%) 2750 suffered at least one complication (77 total) timeframe...
Abstract Previous studies have suggested a relationship between the number of CAG triplet repeats in HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks investigate whether is associated with risk developing certain tauopathies its influence as modulator clinical neuropathological phenotype. Additionally, it aims evaluate potential polyglutamine staining screening. We genotyped repeat APOE‐ℰ isoforms cohort patients diagnoses ( n =588),...
Abstract Background The reasons underlying the loss of efficacy deep brain stimulation ( DBS ) thalamic nucleus ventralis intermedius VIM ‐ over time in patients with essential tremor are not well understood. Methods Long‐term clinical outcome and parameters were evaluated 14 who underwent . mean ± standard deviation postoperative follow‐up was 7.7 3.8 years. At each visit (every 3–6 months), assessed using Fahn‐Tolosa‐Marin rating scale FTM TRS recorded (contacts, voltage, frequency, pulse...
Microvascular decompression is considered to be the most effective and only etiological surgical treatment for classical trigeminal neuralgia, relieving neurovascular compression found in up 95% of cases. This study aims report long-term outcomes identify prognostic factors a series patients with neuralgia treated by microvascular decompression.
Previous studies suggest a link between CAG repeat number in the HTT gene and non-Huntington neurodegenerative diseases.The aim is to analyze whether expanded alleles and/or their size are associated with risk for developing α-synucleinopathies or behavior as modulators of phenotype.We genotyped APOE-Ɛ isoforms case-control series including patients either clinical neuropathological diagnosis α-synucleinopathy.We identified three Parkinson's disease (PD) (0.30%) two healthy controls (0.19%)...
Two patients suffering from ophthalmoplegic migraine had a strictly unilateral headache absolutely responsive to indomethacin, but not other non-steroidal anti-inflammatory drugs, analgesics or corticosteroids. Such observations raise therapeutic alternative and suggest that may present with different phenotypes.
Background: Migraine attacks exclusively felt in the face are very rare, pain involving territories supplied by second and third branches of trigeminal nerve. Cases: Two patients suffering from heminasal accompanied with typical migrainous features responsive to oral or intranasal triptans – but not lidocaine oxymetazoline. In one patient, could be precipitated upon slight touching on tip nose, other were preceded nasal sensation typically heralding sneezing. Discussion: mostly develops...
Microvascular decompression is considered to be the most effective and only etiological surgical treatment for classical trigeminal neuralgia, relieving neurovascular compression found in up 95% of cases. This study aims report long-term outcomes identify prognostic factors a series patients with neuralgia treated by microvascular decompression.A retrospective observational 152 consecutive operated at least six months follow-up. The results, including pain relief according Barrow...
Dopamine dysregulation syndrome is a complication of the dopaminergic treatment in Parkinson's disease that may be very disabling due to negative impact compulsive medication use have on patients' social, psychological, and physical functioning. The relationship between subthalamic nucleus deep brain stimulation dopamine patients with remains unclear. Deep improve, worsen, or no effect preoperative syndrome. Moreover, appear for first time after nucleus. outcome postoperative poor despite...
Lesch-Nyhan disease (LND) variants are caused by partial deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Patients with LND have hyperuricemia and varying degrees motor, cognitive, behavioral abnormalities that usually milder than those observed in classical LND.1, 2 The absence self-injurious behavior is considered an additional diagnostic criterion.1, Dystonia most common motor disorder both classic variants.2, 3 Although a variety dystonic movements postures...
Abstract We conducted the largest PSP GWAS of Iberian population to date (522 cases from 22 Spanish and Portuguese institutions). independently replicated seven known risk variants, unveiled a novel locus in NFASC/CNTN2 after meta-analysing our results with newly available Dutch cohort publicly summary statistics. These findings highlight importance neuron-oligodendrocyte interactions etiopathology.