Christopher J. Record
A5014909823- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Peripheral Neuropathies and Disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Cellular transport and secretion
- Multiple Sclerosis Research Studies
- Muscle Physiology and Disorders
- Endoplasmic Reticulum Stress and Disease
- CRISPR and Genetic Engineering
- Microtubule and mitosis dynamics
- Ubiquitin and proteasome pathways
- Genomic variations and chromosomal abnormalities
- Parkinson's Disease Mechanisms and Treatments
- DNA Repair Mechanisms
- Hippo pathway signaling and YAP/TAZ
- Retinal and Optic Conditions
- Signaling Pathways in Disease
- Cellular Mechanics and Interactions
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
National Hospital for Neurology and Neurosurgery
2021-2025
University College London
2021-2025
Institut de Myologie
2023
Pitié-Salpêtrière Hospital
2023
Sorbonne Université
2023
Hospices Civils de Lyon
2023
St George's Hospital
2021
Atkins (United Kingdom)
2021
St George’s University Hospitals NHS Foundation Trust
2020
Hammersmith Hospital
2019
Abstract Reports of Guillain-Barré syndrome (GBS) have emerged during the Coronavirus disease 2019 (COVID-19) pandemic. This epidemiological and cohort study sought to investigate any causative association between COVID-19 infection GBS. The epidemiology GBS cases reported UK National Immunoglobulin Database was studied from 2016 compared Data were stratified by hospital trust region, with numbers per month. population data for collated public health bodies. In parallel, but separately,...
Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic but diagnostic impact in CMT yet to be fully reported. We present results from a single specialist neuropathy centre, including WGS testing. Patients were assessed at our centre 2009 2023. Genetic testing was performed using gene testing, next-generation...
Abstract Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported remain classified as uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic, clinical genetic data on patients CMT associated variants. Pathogenicity for each variant was defined...
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathies (HSAN) are clinically genetically heterogeneous disorders exclusively or predominantly affecting the neurons. Due rarity of diseases findings based mainly on single case reports small series, knowledge about these is limited. Here, we describe molecular workup a large international cohort CIP/HSAN patients including from normally under-represented countries. We identify 80 previously unreported pathogenic...
Lanthanide complexes of triazolylDO3A have been used to prepare bimetallic d–f hybrid in which the triazolyl pendant arm coordinates both lanthanide and a transition-metal ion, their properties compared with those analogous systems triazoloDO3A domain is separated from rhenium chromophore by an alkyl spacer. The triazole-bridged system has shown facilitate energy transfer but also exhibits reduced affinity triazole nitrogen for center. In contrast, two domains are spacer shows...
Measurements of non-displaceable binding (VND) positron emission tomography (PET) ligands are not often made in vivo humans because they require to displace target receptors and there few readily available, safe ones use. A technique measure VND for the 18-kDa translocator protein (TSPO) has recently been developed which compares total volume distribution (VT) before after administration TSPO ligand XBD173. Here, we used XBD173 with an occupancy plot quantify two radiotracers, [18F]GE-180...
Background The serine/threonine mammalian Ste-20 like kinases (MSTs) are key regulators of apoptosis, cellular proliferation as well polarization. Deregulation MSTs has been associated with disease progression in prostate and colorectal cancer. four human regulated differently by C-terminal regions flanking the catalytic domains. Principal Findings We have determined crystal structure kinase domain MST4 complex an ATP-mimetic inhibitor. This is first inactive conformation a member MST...
Myelination is essential for neuronal function and health. In peripheral nerves, >100 causative mutations have been identified that cause Charcot-Marie-Tooth disease, a disorder can affect myelin sheaths. Among these, number of are related to targets the posttranslational modification neddylation, although how these lead defects unclear. Here, we demonstrate inhibiting neddylation leads notable absence axonal loss both in developing regenerating mouse nerves. Our data indicate exerts...
Background: Why some individuals experience severe neuropathy following infection is unknown. Nucleocytoplasmic trafficking (NCT) an essential process in nucleated cells, and its disruption has been implicated many neurodegenerative conditions including amyotrophic lateral sclerosis (ALS) frontotemporal dementia.
ABSTRACT Background Biallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous PNPT1 , reported three families cerebellar ataxia and prominent sensory neuropathy. Methods Whole genome sequencing was performed two autosomal dominant ataxic neuropathy (SAN). Results Segregating splice site (c.2014‐3C>G) nonsense (p.Arg715Ter) were detected both...
<h3>Background and Objectives</h3> Spinal muscular atrophy (SMA) is mainly caused by homozygous <i>SMN1</i> gene deletions on 5q13. Non-5q SMA patients' series are lacking, the diagnostic yield of next-generation sequencing (NGS) largely unknown. The aim this study was to describe clinical genetic landscape non-5q evaluate performance neuropathy panels in these disorders. <h3>Methods</h3> Description patients with followed different neuromuscular reference centers France as well London,...
Introduction Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) mainly aimed at the most frequent genes underlying genetic neuropathy (GN) spastic ataxias Europeans. In this study, we used next-generation sequencing to screen 61 probands with GN, hereditary paraplegia (HSP), a diagnosis. Methods After identifying four GN PMP22 duplication one ataxia proband SCA1, remaining underwent whole exome ( n = 26) or genome 30)....
Lower limb muscle magnetic resonance imaging (MRI) obtained fat fraction (FF) can detect disease progression in patients with Charcot-Marie-Tooth 1A (CMT1A). However, analysis is time-consuming and requires manual segmentation of lower muscles. We aimed to assess the responsiveness, efficiency accuracy acquiring FF MRI using an artificial intelligence-enabled automated technique.
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with variable age onset. Nevertheless, the definitive validity SPG12 remains to be confidently confirmed due scarcity supporting evidence. In this study, we and validated seven novel or ultra-rare homozygous loss-of-function 14 individuals from consanguineous distal hereditary motor neuropathy (dHMN) using exome, genome Sanger...
Abstract Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) typically ∼80%–95%, of which at least 60% due to PMP22 gene duplication. remainder CMT1 more genetically heterogeneous. We used whole exome and genome sequencing data included GENESIS database investigate novel causal genes mutations cohort ∼2670 individuals with neuropathy. A recurrent heterozygous missense variant p.Thr1424Met...
Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that described include Parkinsonism a multiple system atrophy (MSA)-like syndrome. CANVAS can of dysautonomia, but they are much milder than typically seen MSA. We report detailed autonomic phenotype multisystem RFC1-related disease presenting initially as CANVAS. Our patient presented aged 61 with...
Abstract Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic remains scarce inconsistent middle-income countries such as Brazil. The lack public health policies enable feasible genetic the shortage specialists are main reasons process. We report our experience a...
Objective: To evaluate a novel machine learning MRI model, and its ability to quantify ‘how much older’ multiple sclerosis (MS) brain is than the patient’s chronological age. Background: A predictive model of aging was previously built using in 1,537 healthy individuals, can accurately predict age based solely upon T1-weighted (r=0.92). This be applied disease cohorts accelerated diseased brains. Design/Methods: Brain estimated MRIs from 10 controls (HCs) 17 people with MS, both before after...
Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G ( PIGG ) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood‐onset motor neuropathy neurophysiology demonstrating variable conduction block temporal dispersion. All individuals had childhood onset tremor, 5 of involvement, febrile seizures. have biallelic variants, including the previously reported pathogenic variant Trp505*, plus...