A5084786868- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Parkinson's Disease Mechanisms and Treatments
- Cellular transport and secretion
- Biotechnology and Related Fields
- Epilepsy research and treatment
- Coenzyme Q10 studies and effects
- Botulinum Toxin and Related Neurological Disorders
- Congenital gastrointestinal and neural anomalies
- Metabolism and Genetic Disorders
- Ethics in medical practice
- Galectins and Cancer Biology
- RNA modifications and cancer
- Medical Malpractice and Liability Issues
- Ethics and bioethics in healthcare
- Amyotrophic Lateral Sclerosis Research
- Chronic Lymphocytic Leukemia Research
- Glycogen Storage Diseases and Myoclonus
- Viral Infections and Vectors
Boston Children's Hospital
2024-2025
Harvard University
2024-2025
Hospital Carlos Van Buren
2022-2024
Boston University
2024
Centre for Movement Disorders
2024
Valparaiso University
2024
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case a 3-year-old male with blended phenotype TECPR2-related hereditary sensory autonomic neuropathy (HSAN9) Temple syndrome (TS14) due to maternal UPiD chromosome 14, which includes loss-of-function founder variant in TECPR2 gene [NM_014844.5: c.1319del, p.Leu440Argfs*19]. This illustrates challenges associated ultra-rare underscores importance investigating...
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous lead to a syndrome of lower limb spasticity and dysregulation sphincter function. We critically evaluate this claim against clinical observations 28 carriers the same variant (NM_007077.3: c.289C>T, p.Arg97Ter). In these 14 males females (mean age: 37.6 ± 4.9 years [SD], range: 30–50 years), we ascertain no increased prevalence neurological...
The primary objective of this paper was to present the establishment Spastic Paraplegia-Centers Excellence Research Network (SP-CERN) aimed at promoting clinical trial readiness for hereditary spastic paraplegia (HSP). SP-CERN is unique in its approach addressing diagnostic and therapeutic challenges associated with HSP through a large-scale, collaborative effort. Participants are identified multicenter collaborations across 11 institutions United States. systematically collects longitudinal...
Children with developmental and epileptic encephalopathies often present co-occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy variety of movement disorders ranging from focal hand dystonia to generalized frequent status dystonicus. In this report, we three patients severe as part ARX-associated epilepsy-dyskinesia syndrome, including patient novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic management...
The Powassan virus is a rare neurotropic, tick-borne arbovirus associated with meningoencephalitis. Despite the virus's known predilection for basal ganglia, there are no reports detailing spectrum of movement disorders in children
Abstract Juvenile‐onset Huntington's disease (HD) is a rare subset of HD with symptom‐onset before the age 18. In contrast to adult population, children present early‐on behavioral, psychiatric, and cognitive symptoms, in addition diverse spectrum movement disorders. This poses distinct challenge diagnosis management. We here describe disorders, accompanied detailed video recordings, seven cases juvenile‐onset HD. Our findings highlight early behavioral preceding motor symptoms. The disorder...
Autosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents slowly progressive lower limb weakness and spasticity is therefore considered a pure form of paraplegia. However, we report two unrelated males novel (NM_001199753.2: patient 1: c.2057_2061del (p.Ile686SerfsTer8) 2: c.2020-1G>C (p.?)) who presented at 4 3 years old, respectively. Both patients also experienced significant cognitive impairment,...
With 35 Clinical Geneticists (CG) for Chile's 19.49 million (0.19 CG 100,000 inhabitants), there is a national scarcity genetic services and disease prevalence data. The largest patient-led survey counts one patients with conditions in 2019, 47% waiting 1-3 years diagnosis 21% 4-10 years. Sixteen point six percent of this cohort was evaluated by 70% not able to afford testing. In the Valparaiso region are 1.79 inhabitants 89% them public health system where only CG.
El síndrome de Varsovia (WABS) es una enfermedad autosómica recesiva muy poco frecuente. Hasta la fecha se han identificado 24 casos en literatura. Hay descripciones pacientes con diferentes orígenes étnicos, pero sólo uno ellos latinoamericano, Uruguay.Objetivo: Reportar un caso Chile que manifestó tríada clásica, el objetivo caracterizar su fenotipo y contribuir a descripción del Latinoamérica.Caso Clínico: Paciente sexo masculino, segundo hijo padres consanguíneos. Embarazo restricción...
Clinical Ethics Committees are deliberative groups whose main functions to assess cases with ethical-clinical conflicts, generate institutional protocols for preventive purposes, and train health teams.To analyze the activity of a clinical ethics committee general hospital in period 2007-2020.A retrospective analysis all session records, annual reports, case resolution documents generated by Committee Carlos van Buren Hospital Valparaíso, Chile, between 2007 2020, was carried out.On average,...