Andrew J. Kornberg
A5015407623- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- RNA Research and Splicing
- RNA modifications and cancer
- Lysosomal Storage Disorders Research
- Cardiomyopathy and Myosin Studies
- Cerebral Palsy and Movement Disorders
- Genetics and Neurodevelopmental Disorders
- Children's Physical and Motor Development
- Myasthenia Gravis and Thymoma
- Genetic Neurodegenerative Diseases
- Infectious Encephalopathies and Encephalitis
- Prosthetics and Rehabilitation Robotics
- Epilepsy research and treatment
- Nuclear Structure and Function
- Peripheral Nerve Disorders
- Autoimmune and Inflammatory Disorders Research
- Genomics and Rare Diseases
- Mesenchymal stem cell research
- Acute Lymphoblastic Leukemia research
- Metabolism and Genetic Disorders
Murdoch Children's Research Institute
2014-2024
Royal Children's Hospital
2015-2024
The University of Melbourne
2009-2024
Boston Children's Hospital
2014-2023
Harry Perkins Institute of Medical Research
2023
Brigham and Women's Hospital
2023
The University of Western Australia
2023
Broad Institute
2023
St Vincent's Hospital
2001-2021
Florey Institute of Neuroscience and Mental Health
2002-2021
Background: There has been tremendous growth in research pediatric multiple sclerosis (MS) and immune mediated central nervous system demyelinating disorders since operational definitions for these conditions were first proposed 2007. Further, the International Pediatric Multiple Sclerosis Study Group (IPMSSG), which criteria, expanded substantially membership its international scope. Objective: The purpose of this review is to revise 2007 order incorporate advances delineating clinical...
To identify the clinical and neuroradiologic features of acute disseminated encephalomyelitis (ADEM) in childhood.A retrospective review was conducted medical records MRI children who presented to Royal Children's Hospital Melbourne with ADEM between January 1993 December 1998.Of 31 patients included this study, 22 (71%) experienced a prodromal illness. Two (6%) had received hepatitis B vaccine 3 6 weeks before developing their Symptoms signs typically evolved over several days. Ataxia most...
<h3>Objective:</h3> To assess the utility and safety of rituximab in pediatric autoimmune inflammatory disorders CNS. <h3>Methods:</h3> Multicenter retrospective study. <h3>Results:</h3> A total 144 children adolescents (median age 8 years, range 0.7–17; 103 female) with NMDA receptor (NMDAR) encephalitis (n = 39), opsoclonus myoclonus ataxia syndrome 32), neuromyelitis optica spectrum 20), neuropsychiatric systemic lupus erythematosus 18), other neuroinflammatory 35) were studied. Rituximab...
We aimed to perform an observational study of age at loss independent ambulation (LoA) and side-effect profiles associated with different glucocorticoid corticosteroid (GC) regimens in Duchenne muscular dystrophy (DMD).We studied 340 participants the Cooperative International Neuromuscular Research Group Natural History Study (CINRG-DNHS). LoA was defined as continuous wheelchair use. Effects prednisone or prednisolone (PRED)/deflazacort (DFZ), administration frequency, dose were analyzed by...
New therapies are being evaluated by clinical trials and, if efficacious, introduced for the treatment of adult MS. The role these new and existing agents in management pediatric MS has yet to be defined. Pediatric investigation plans now required Food Drug Administration European Medicines Agency approval biological agents, providing an important opportunity gather much-needed data clinicians caring children adolescents with However, challenges include small number patients, need efficient...
Abstract Objective Our first objective was to determine whether SEPN1 gene mutations are a cause of congenital fiber‐type disproportion (CFTD), rare form myopathy in which relative hypotrophy type 1 (slow twitch) muscle fibers is the principal abnormality on histology. Second, we investigated an association between ‐related and insulin resistance. Methods We sequenced five unrelated CFTD patients with scoliosis respiratory weakness screened additional 22 for abnormalities by Western blotting...
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of 1 (slow twitch) fibers compared to 2 (fast fibers. To investigate whether mutations RYR1 are a cause CFTD we sequenced seven families whom the other known causes had been excluded. We identified compound heterozygous changes gene four (five patients), consistent with autosomal recessive inheritance. Three out five patients ophthalmoplegia, which may be most specific clinical indication RYR1. Type...
To perform a double-blind, randomized study comparing efficacy and safety of daily weekend prednisone in boys with Duchenne muscular dystrophy (DMD).A total 64 DMD who were between 4 10 years age at 1 12 centers the Cooperative International Neuromuscular Research Group. Efficacy 2 schedules (daily 0.75 mg/kg/day mg/kg/wk) evaluated over months.Equivalence was met for dosing primary outcomes quantitative muscle testing (QMT) arm score QMT leg score. Secondary strength scores elbow flexors...
We have undertaken a clinic-based survey of neuromyelitis optica spectrum disorders (NMOSDs) in Australia and New Zealand to establish incidence prevalence across the region populations differing ancestry.NMOSD is recently defined demyelinating disease central nervous system (CNS). The NMOSD has not been established.Centres managing patients with CNS reported clinical laboratory features that were suspicious for NMOSD. Testing aquaporin 4 antibodies was all suspected cases. From this group,...
We describe changes in pulmonary function measures across time Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve the Cooperative International Research Group Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 assessments over period up 10 years. Fifty-three (< month exposure) were 322 subjects cumulative treatment. Forced vital capacity (FVC), peak expiratory flow rate (PEFr), maximal inspiratory...
Abstract Objective To study the epilepsy syndromes among severe epilepsies of infancy and assess their incidence, etiologies, outcomes. Methods A population‐based cohort was undertaken with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, electroencephalograms to diagnose International League Against Epilepsy syndromes. Incidence, outcomes at 2 years were determined. Results Seventy‐three 114 (64%) infants fulfilled diagnostic...
Serum IgG anti-GM1 antibodies have been reported to occur in a variety of disorders, including Guillain-Barré syndrome and chronic polyneuropathies. Of over 5,000 serums tested our laboratory, high titers selective (> 1:1,000) without binding sulfatide were found 35 patients. Clinical correlation revealed that almost all patients had axonal, motor neuropathies. One subgroup was comprised individuals with an acute neuropathy, described either as axonal Guillain-Barré-like occasionally...
Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by pontocerebellar hypoplasia apnoea, we discovered missense mutation an exonic deletion in the SLC25A46 gene encoding protein recently implicated optic atrophy spectrum disorder. We performed functional studies that confirmed localization pro-fission properties of...
<b><i>Background:</i></b> Benign acute myositis of childhood is a disorder midchildhood, typically affecting boys. Symptoms include calf pain and difficulty walking after viral illness. There an epidemiologic association with influenza. <b><i>Objectives:</i></b> To describe the clinical laboratory features benign myositis. <b><i>Results:</i></b> Thirty-eight children (32 boys, 6 girls) were seen 41 episodes between 1978 1997. Two siblings three had recurrent episodes. Mean age at onset...
Chronic inflammatory demyelinating neuropathy (CIDP) is a rare disease in childhood. We reviewed the clinical characteristics, response to therapy, and long-term prognosis 13 children (1.5 16 years of age) diagnosed with CIDP at Washington University Medical Center, St. Louis, Royal Children's Hospital, Melbourne, Australia, between 1979 1994. The most common presenting symptom (in 11/13 [85%]) was lower extremity weakness associated difficulty walking. Preceding events within 1 months...
To describe the clinical features and course of a cohort patients with juvenile dermatomyositis (JDM) at tertiary referral pediatric centre in Australia examine changes diagnostic therapeutic approach over time.Retrospective review diagnosed JDM Royal Children's Hospital, Melbourne, between 1989 2010.Fifty-seven were identified. The female : male ratio was 2 1 median age diagnosis 7.1 years (2.2-15.3). At diagnosis, 95% had weakness, all typical rash 68% nailfold capillary changes....
<b>Objective:</b> To evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 years including elderly patients and to highlight concept of structurally normal heart sudden death. <b>Methods:</b> Pathological data were collected prospectively for adult referred by coroners. <b>Results:</b> 453 cases death from 1994 2003 (278 men (61.4%) 175 women (38.6%), age range 15–81 years) reviewed. Males predominated both groups (⩽ 35 years, > years). More than half hearts (n =...