Roy Poh

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

Christopher J. Record, Tiffany Grider, Adriana P. Rebelo, Christian Laurini et autres

BACKGROUND: have recently been shown to cause dominant Charcot-Marie-Tooth disease (CMT). We aim to characterise the phenotype of patients with previously reported and novel heterozygous variants in the gene and understand any genotype-phenotype correlation. METHODS: Patients were clinically and genetically assessed in …

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ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

Saif Haddad, Roy Poh, Jason Hehir, James M. Polke et autres

BACKGROUND: Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial …

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ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy

Valentine Perrain, Christopher J. Record, Mariola Skorupinska, Julian Blake et autres

Arthrogryposis multiplex congenita (AMC) is associated with >150 genes, including ADGRG6, which codes for an adhesion G protein-coupled receptor. Biallelic loss of function variants in ADGRG6 have been linked to lethal congenital contracture syndrome. Here we present an atypical, milder phenotype associated …

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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

Christopher J. Record, Menelaos Pipis, Mariola Skorupinska, Julian C. Blake et autres

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 diseases, but the diagnostic impact in CMT is yet to be fully …

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Digenic FLNA and UCHL1 variants resulting in a complex phenotype

Helena F Pernice, Luke O’Donnell, Alexander Martin Rossor, Matilde Laurá et autres

AIM: X-linked variants in Filamin A (FLNA) are associated with the Ehlers-Danlos-syndrome-variant form of periventricular heterotopia, and autosomal dominant variants in ubiquitin C-terminal hydrolase L1 (UCHL1) are associated with a late-onset spastic ataxia, peripheral neuropathy and optic atrophy. Here we present a …

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Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts

Andrea Cortese, Riccardo Currò, Riccardo Ronco, Julian C. Blake et autres

BACKGROUND AND PURPOSE: Mutations in the alpha-B-crystallin (CRYAB) gene have initially been associated with myofibrillar myopathy, dilated cardiomyopathy and cataracts. For the first time, peripheral neuropathy is reported here as a novel phenotype associated with CRYAB. METHODS: Whole-exome sequencing was performed in …

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Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Menelaos Pipis, Seongsik Won, Roy Poh, Stéphanie Efthymiou et autres

Copy number variation (CNV) may lead to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commonest inherited peripheral neuropathy, is due to a genomic duplication encompassing the dosage-sensitive PMP22 gene. MicroRNAs act as repressors on post-transcriptional regulation of gene expression and …

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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

Christopher J. Record, Mariola Skorupinska, Matilde Laurá, Alexander Martin Rossor et autres

Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported GJB1 variants remain classified as …

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Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease

Christopher J. Record, Menelaos Pipis, Roy Poh, James M. Polke et autres

Dear Editor

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Charcot-Marie-Tooth disease type 2CC due toNEFHvariants causes a progressive, non-length-dependent, motor-predominant phenotype

Menelaos Pipis, Andrea Cortese, James M. Polke, Roy Poh et autres

Objective Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants inNEFHhave 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 and 3 asymptomatic mutation …

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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Neringa Jurkutė, Priya Devi Shanmugarajah, Marios Hadjivassiliou, Jenny E. Higgs et autres

Purpose: The purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants. Methods: Patients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) …

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Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Simona Balestrini, Matthias J. Koepp, Sonia Gandhi, Hannah M. Rickman et autres

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