A5103015021- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Peripheral Neuropathies and Disorders
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Prion Diseases and Protein Misfolding
- Metabolism and Genetic Disorders
- Myasthenia Gravis and Thymoma
- Botulinum Toxin and Related Neurological Disorders
- RNA Research and Splicing
- Multiple Sclerosis Research Studies
- Autoimmune Neurological Disorders and Treatments
- Nuclear Structure and Function
- Trace Elements in Health
- Cardiomyopathy and Myosin Studies
- Neurological and metabolic disorders
- Long-Term Effects of COVID-19
- Chemotherapy-induced cardiotoxicity and mitigation
- Respiratory Support and Mechanisms
- Genetic and phenotypic traits in livestock
- Renal function and acid-base balance
- Neurological disorders and treatments
- Cancer Treatment and Pharmacology
University of Puerto Rico System
2006-2023
Hospital Sant Joan de Déu Barcelona
2003-2021
University of Puerto Rico at Río Piedras
2015
Universidad de Zaragoza
2007-2013
Hôpital Robert-Debré
2013
Nationwide Children's Hospital
2006-2010
Hospital de Sant Pau
1998-2009
Instituto de Genética Veterinaria
2007
The Ohio State University
2006
Fundación Renal
2005
The objective of this study was to establish the feasibility long-term gentamicin dosing achieve stop codon readthrough and produce full-length dystrophin. Mutation suppression codons, successfully achieved in mdx mouse using gentamicin, represents an important evolving treatment strategy Duchenne muscular dystrophy (DMD).Two DMD cohorts received 14-day (7.5mg/kg/day): Cohort 1 (n = 10) patients 2 8) frameshift controls. Two additional were treated (7.5mg/kg) for 6 months: 3 12) dosed weekly...
Urate elevation, despite associations with crystallopathic, cardiovascular, and metabolic disorders, has been pursued as a potential disease-modifying strategy for Parkinson disease (PD) based on convergent biological, epidemiological, clinical data.To determine whether sustained urate-elevating treatment the urate precursor inosine slows early PD progression.Randomized, double-blind, placebo-controlled, phase 3 trial of oral in PD. A total 587 individuals consented, 298 not yet requiring...
We report a family with new phenotype of autosomal recessive muscle dystrophy caused by dysferlin mutation. The onset the illness is distal, in muscles anterior compartment group. disease rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed frameshift mutation exon 50 (delG5966) DYSF gene. This further demonstrates clinical heterogeneity dysferlinopathies.
Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7 autosomal-dominant (LGMD1A E) and 10 autosomal-recessive (LGMD2A J). To determine the distribution of subtypes among patients in United States, 6 medical centers evaluated with a referral diagnosis LGMD. Muscle biopsies provided histopathology immunodiagnostic testing, their protein abnormalities along clinical parameters directed mutation screening. The 23 was disorder other than Of remaining 289 unrelated...
Abstract Anti‐Hu antibodies (Hu‐Abs) were positive in 40 patients with paraneoplastic sensory neuropathy (PSN) and 1 patient idiopathic a series of 126 who presented clinical features suggestive PSN. The specificity Hu‐Abs was 99% the sensitivity 82%. Nine (18%) PSN Hu‐Ab–negative, their sera did not harbor other specific anti‐neuronal anti‐ganglioside antibodies. Small cell lung carcinoma (SCLC) leading neoplasm Hu‐Ab–positive (79%) Hu‐Ab–negative (44%) groups. This study confirms value for...
<b><i>Objective:</i></b> To determine whether detection of small mutations the dystrophin gene can be increased using an enhanced method single-strand conformation polymorphism analysis. <b><i>Background:</i></b> Usual methods DNA analysis for Duchenne dystrophy cannot identify in one-third cases. Muscle biopsy, with its inherent risks and added liability patients dystrophy, becomes sole diagnosis. Even a tissue diagnosis deficiency, many families are excluded from carrier prenatal...
The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia, pigmentary retinopathy, seizures, lower motor neuron or peripheral neuropathy. Over 41 different SCA subtypes have been described evidencing the high clinical genetic heterogeneity. We previously reported novel type subtype, SCA37, linked to...
Data on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients. Among early-onset PD long duration, we assessed and motor performances, comparing homozygotes compound heterozygotes who carry 2 PARKIN mutations noncarriers. Cross-sectional study 44 participants at 17 different movement disorder centers were in Consortium Risk for Early-Onset a duration greater than median (>14 years): 4 (hereafter...
Importance: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify characterize the different subtypes of spinocerebellar ataxia (SCA). Objective:To clinically genetically a Spanish kindred with pure SCA presenting altered vertical eye movements.Design: Family study ambulatory patients.Electrooculographic genetics studies were performed in 2 referral university centers.Setting: Primary care institutional center Spain.Participants: Thirty-six...
Sleep disturbances occur frequently in patients with Parkinson’s disease (PD). The aim of this study was to investigate the effects rotigotine on sleep fluctuations a sample PD self-reported complaints nocturnal awakenings. This prospective, open-label, observational, and multicenter enrolled consecutive outpatients administered (mean dose 8.9 mg/day) for 3 months. primary endpoint change from baseline fragmentation, assessed using maintenance subscale score Disease Scale (PDSS). newly...
Abstract We report a case of 31‐year‐old woman who presented migraine attacks with aura within the 48 hr after transcatheter closure an atrial septal defect Amplatzer occluder device. The persisted for 3 months, and all examinations performed to rule out thromboembolic origin were negative. Catheter Cardiovasc Interv 2003;60:540–542. © 2003 Wiley‐Liss, Inc.
ABSTRACT Background Few studies have systematically investigated the association between PARKIN genotype and psychiatric co‐morbidities of Parkison's disease (PD). ‐associated PD is characterized by severe nigral dopaminergic neuronal loss, a finding that may implications for behaviors rooted in circuits such as obsessive‐compulsive symptoms (OCS). Methods The Schedule Compulsions Obsessions Patient Inventory (SCOPI) was administered to 104 patients with early‐onset 257 asymptomatic...
Scrapie is a transmissible spongiform encephalopathy in sheep and goats. Susceptibility to this neurodegenerative disease mainly controlled by point mutations at the PRNP locus. Other genes, apart from PRNP, have been reported modulate resistance/susceptibility scrapie. On basis of several studies Alzheimer different models, HSP90AA1 was chosen as putative positional functional candidate gene that might be involved polygenic variance mentioned above. In present work, ovine including promoter...
ABSTRACT Creutzfeldt‐Jakob disease (CJD) is a rare human transmissible spongiform subacute encephalopathy. The most common clinical manifestations of CJD include rapidly progressive dementia, behavioural changes, cerebellar dysfunction and myoclonus. Other seizure types are nonconvulsive status epilepticus (SE) exceptional. We report case 44‐year‐old man who presented psychotic episode followed by akinetic mutism refractory SE. final diagnosis was CJD. Continuous video‐EEG monitoring...
We report a family with new phenotype of autosomal recessive muscle dystrophy caused by dysferlin mutation. The onset the illness is distal, in muscles anterior compartment group. disease rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed frameshift mutation exon 50 (delG5966) DYSF gene. This further demonstrates clinical heterogeneity dysferlinopathies. Ann...
Abstract Whether axonal regeneration in Charcot‐Marie‐Tooth (CMT) neuropathies is impaired has not been addressed detail. Our studies nude mice harboring xenografts from patients with different primary Schwann cell (SC) genetic defects suggested an intimate association between the onset of myelination and impairment growth capacity axons engulfed by mutant SCs. To assess effects peripheral myelin protein 22 (PMP22) gene duplication on process, we conducted morphometric to generate temporal...