Menelaos Pipis
A5048380584- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Peripheral Neuropathies and Disorders
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Long-Term Effects of COVID-19
- CNS Lymphoma Diagnosis and Treatment
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Lymphoma Diagnosis and Treatment
- Alzheimer's disease research and treatments
- Neurological disorders and treatments
- Cutaneous lymphoproliferative disorders research
- Botulinum Toxin and Related Neurological Disorders
- Amyotrophic Lateral Sclerosis Research
- Multiple Sclerosis Research Studies
- Coenzyme Q10 studies and effects
- Vascular Malformations Diagnosis and Treatment
- Pancreatic function and diabetes
- Connective tissue disorders research
- Protein Tyrosine Phosphatases
University College London
2012-2024
National Hospital for Neurology and Neurosurgery
2017-2024
Guy's and St Thomas' NHS Foundation Trust
2024
John Wiley & Sons (United States)
2024
Hudson Institute
2024
King's College London
2022
University College London Hospitals NHS Foundation Trust
2020-2021
Northwick Park Hospital
2015
Watford General Hospital
2014
The Royal Free Hospital
2012
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,...
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) major late onset ataxia. Here we describe full spectrum disease phenotype our first 100 genetically confirmed carriers expansions RFC1 identify sensory neuropathy common feature all cases to date. All...
Defeating peripheral neuropathy The mechanisms underlying neuropathies are not well understood. Spaulding et al . studied mouse models of the inherited Charcot-Marie-Tooth (CMT) disease, which is caused by mutations in transfer RNA (tRNA) synthetases. Changes gene expression and rate protein synthesis neurons spinal cord triggered cell stress response activated sensor GCN2. When GCN2 was genetically deleted or inhibited with drugs, blocked, much milder. Zuko found that mutant glycyl-tRNA...
SARM1, a protein with critical NADase activity, is central executioner in conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles patients amyotrophic lateral sclerosis (ALS) other motor nerve disorders that alter the auto-inhibitory ARM domain and constitutively hyperactivate activity. The constitutive activity these variants similar to lacking entire greatly exceeds wild-type even presence nicotinamide mononucleotide...
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 Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accumulation in the commonest form, CMT1A with large responsiveness. In this study, we evaluated responsiveness and validity three other common forms, due to variants GJB1 (CMTX1), MPZ (CMT1B) MFN2 (CMT2A). Methods 22 CMTX1, 21 CMT1B CMT2A patients matched...
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...
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants ten unrelated patients with neurodevelopmental disorder characterized by variable degrees central peripheral involvement. Abnormal expression Nfasc155 is accompanied severe loss myelinated fibres.
Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot–Marie–Tooth disease type 1A (CMT1A) patients with baseline calf‐level FF. We investigated the practicality, validity, and of foot‐level FF this cohort involving 22 CMT1A 14 controls. The mean was 25.9 ± 20.3% patients, 365‐day ( n = 15) increased by 2.0 2.4% p < 0.001 vs controls). Intrinsic demonstrated large (12‐month standardized response (SRM) 0.86) correlated CMT examination score ρ 0.58, P 0.01). has...
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.
Objective Neurofilaments are the major scaffolding proteins for neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). Methods In this large observational study, we present phenotype–genotype correlations on 30 affected 3 asymptomatic mutation carriers from eight families. Results The majority of patients presented adulthood with motor-predominant lower limb-predominant symptoms average age onset was 31.0±15.1...
Abstract Copy number variation (CNV) may lead to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commonest inherited peripheral neuropathy, is due a genomic duplication encompassing dosage-sensitive PMP22 gene. MicroRNAs act as repressors on post-transcriptional regulation of gene expression in rodent models CMT1A, overexpression one such microRNA (miR-29a) has been shown reduce transcript protein level. Here we present functional evidence, for first time human...
Abstract Pathogenic variants in the genes encoding serine palmitoyl transferase ( SPTLC1 or SPTLC2 ) are most common causes of rare peripheral nerve disorder Hereditary Sensory Neuropathy Type 1 (HSN1). Macular telangiectasia type 2 (MacTel), a retinal associated with disordered serine‐glycine metabolism, has been described some patients HSN1. This study aims to further investigate this association cohort people Fourteen clinically and genetically confirmed diagnosis HSN1 from National...
The CMT-FOM is a 13-item clinical outcome assessment (COA) that measures physical ability in adults with Charcot-Marie-Tooth disease (CMT). Test-retest reliability, internal consistency and convergent validity have been established for the CMT-FOM. This current study sought to establish inter-rater reliability. Following an in-person training of six international evaluators we recruited 10 participants genetically diagnosed CMT1A, (aged 18-74 years, 6 female). Participants were evaluated...
Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), while primary deficiencies the respiratory chain (MRC) rare and atypical for this etiology. This study aims to report
Abstract Background 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. Methods The epidemiology GBS cases reported via UK National Immunoglobulin Database were studied from 2016-2019 compared For study, members British Peripheral Nerve Society all clinical features, investigation findings outcomes (definite or...
ABSTRACT SARM1, a protein with critical NADase activity, is central executioner in conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles patients amyotrophic lateral sclerosis (ALS) other motor nerve disorders that alter the auto-inhibitory ARM domain and constitutively hyperactivate activity. The constitutive activity these variants similar to lacking entire greatly exceeds wild-type even presence nicotinamide...
Peripheral T-cell lymphomas are rare heterogeneous haematological malignancies that may also involve peripheral nerves in a very small subset of cases. We report patient with diagnostically challenging cutaneous lymphoma and multifocal mononeuropathies whom targeted nerve biopsy identified lymphomatous infiltration expedited combination treatment chemotherapy an autologous stem cell transplant. She showed excellent response complete metabolic on positron emission tomography imaging...
Motivation: Current clinical use of quantitative MRI biomarkers for the assessment neuromuscular disease is limited by accuracy and reliabilityGoal(s): To develop a robust processing strategy multi-vendor muscle-water T2 mapping (T2m) in foot muscleApproach: A multi-component CPMG extended phase graph signal model was used to determine T2m apparent fat fraction (ffa) fat-infiltrated muscle using maximum likelihood estimationResults: Stable estimates ffa were obtained patients with...