A5088437209- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Sphingolipid Metabolism and Signaling
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- CRISPR and Genetic Engineering
- Lipid metabolism and disorders
- Machine Learning in Bioinformatics
- Epigenetics and DNA Methylation
- Cardiac Valve Diseases and Treatments
- Neurogenetic and Muscular Disorders Research
- Orthopaedic implants and arthroplasty
- Genetics and Neurodevelopmental Disorders
- Erythrocyte Function and Pathophysiology
- Viral Infections and Immunology Research
- Lysosomal Storage Disorders Research
- Cardiac Structural Anomalies and Repair
- Gene expression and cancer classification
- Bioinformatics and Genomic Networks
- Plant Virus Research Studies
- Endoplasmic Reticulum Stress and Disease
- Prion Diseases and Protein Misfolding
- Genomics and Rare Diseases
Wayne State University
2020-2023
Beijing Friendship Hospital
2020
Ehime Prefectural Central Hospital
2020
Mayo Clinic in Arizona
2020
Neurosciences Institute
2020
Oregon Health & Science University
2020
Molina Center for Energy and the Environment
2020
Mayo Clinic
2020
Abstract Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role mitochondrial fusion. Mutations MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form CMT, with significant allelic heterogeneity. Previous, moderately-sized, cross sectional genotype-phenotype studies CMT2A have described phenotypic spectrum disease, but longitudinal natural history are lacking. In...
Hereditary sensory and autonomic neuropathy type 1 (HSAN1/HSN1) is a peripheral most commonly associated with pathogenic variants in the serine palmitoyltransferase complex (SPTLC1, SPTLC2) genes, which are responsible for sphingolipid biosynthesis. Recent reports have shown that some HSAN1 patients also develop macular telangiectasia 2 (MacTel2), retinal neurodegeneration an enigmatic pathogenesis heritability. Here, we report novel association of SPTLC2 c.529A>G p.(Asn177Asp) variant...
<h3>Objective</h3> To report novel causal mutations, expanded clinical phenotypes, and management of DNA methyltransferase 1 (DNMT1)-complex disorder. <h3>Methods</h3> Neurophysiologic testing, imaging, genetic findings were summarized in context for 5 cases with DNMT1-complex <h3>Results</h3> We identified 2 DNMT1 mutations (p.E510K p.P1546A) by whole-exome sequencing (WES). Case (p.E510K) presented childhood ataxia, treatment-refractory seizures, rapid cognitive decline his 50s. also had...
Abstract Objective Sphingolipids are enriched in the nerves. Serine‐palmitoyltransferase (SPT) catalyzes key step of sphingolipids biosynthesis. Mutations SPT subunits (SPTLC) lead to excessive production neurotoxic deoxysphingolipids (DoxSLs) patients with Hereditary Sensory Neuropathy Type‐1C (HSN1C). HSN1C is an autosomal dominant peripheral neuropathy characterized by sensory loss and distal muscle weakness. In this study, leveraging a family previously reported N177D mutation SPTLC2 ,...
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is caused by a heterozygous deletion of peripheral myelin protein-22 (PMP22) gene resulting in focal sensorimotor deficits. Our lab has identified disruption junctions excessively permeable that impairs action potential propagation. This mechanism expected cause fatigue patients HNPP. Therefore, the objective was characterize HNPP and determine relationship nerve pathology, disability, quality life.
Human sciatic nerve morphometrics were measured for volume, fascicle and density using a 3D gradient echo sequence with an in-plane resolution of 0.15 x mm 2 . Metrics from healthy controls showed moderate correlation volumes body mass index but not age. There was strong between volume the clinical score disease severity in patients hereditary neuropathy liability to pressure palsies.
Down Syndrome (DS) is one of the most common disorders caused by presence an extra copy chromosome 21. It has been shown that expression various genes located on chromosomes other than 21 affected in DS. Given practical and ethical difficulties human tissue studies, Ts65Dn mouse model widely used DS research. In this study, we propose a pipeline composed supervised learning approach, modularity analysis bipartite network, multivariate variance (MANOVA), for identification differentially...
Wednesday, April 29April 14, 2020Free AccessA Novel Missense Mutation Causing Fascioscapulohumeral Dystrophy Type 2: A Case Report (2512)Ali Ebrahim, Mahsa Sadeghi, Sabeena Malik, Sadaf Saba, Wan Yee Kong, Maher Fakhouri, and Jun LiAuthors Info & AffiliationsApril 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.2512 Letters to the Editor
We report a family with compound mutations in IGHMBP2 gene that manifests novel phenotype.