Results 21 to 30 of about 3,165 (187)

Severe distinct dysautonomia in RFC1 ‐related disease associated with Parkinsonism [PDF]

Journal of the Peripheral Nervous System, 2022
Abstract 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 have been described include Parkinsonism and a multiple system
Christopher J. Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S. Rubin, Huw R. Morris, Andrea Cortese, Valeria Iodice, Mary M. Reilly   +8 more
openaire   +6 more sources

Acute Vestibular Syndrome Unmasking an RFC1 -Spectrum Disorder

Neurology Genetics
Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a RFC1-spectrum disorder.Detailed clinical evaluation, neuroimaging ...
Luca Verrecchia, Victor Alm, Håkan Thonberg, Felix Lenner, Aida Paivandy, Lars Feuk, Anna Lindstrand, Daniel Nilsson, Martin Paucar   +8 more
openaire   +5 more sources

Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1. [PDF]

Brain Pathol
This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.
Sipilä J, Rauramaa T, Kytövuori L, Majamaa K.   +3 more
europepmc   +2 more sources

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease. [PDF]

Mov Disord
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Wang X, Fearnley LG, Davies KC, Snell P, Lee S, Jackson VE, Read J, Milton M, Harding IH, Delatycki MB, Szmulewicz DJ, Lockhart PJ, Bahlo M, Rafehi H.   +13 more
europepmc   +2 more sources

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders. [PDF]

Adv Sci (Weinh)
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Lee S, Jung C, Kim M, Kim N, Hwang GH, Lee ST, Chu K, Lee SK, Kim HJ, Chae JH, Bae S, Moon J.   +11 more
europepmc   +2 more sources

TwoRFC1splicing variants in CANVAS

Brain, 2022
International ...
Weber, Sacha, Coarelli, Giulia, Heinzmann, Anna, Monin, Marie-Lorraine, Richard, Nicolas, Gerard, Marion, Durr, Alexandra, Huin, Vincent   +7 more
openaire   +4 more sources

RFC1 -Related Disease

Neurology Genetics, 2022
In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). In addition, biallelic expansions were shown to account for up to 22% of cases with late-onset ataxia.
Kayli Davies, David J. Szmulewicz, Louise A. Corben, Martin Delatycki, Paul J. Lockhart   +4 more
openaire   +3 more sources

Motor neuron pathology in CANVAS due to RFC1 expansions [PDF]

Brain, 2021
Abstract CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. We clinically and genetically characterized 50 patients, selected based on the presence of sensory neuronopathy ...
Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Le Ber, Isabelle, Reilly, Mary, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, Durr, Alexandra   +24 more
openaire   +5 more sources

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

Frontiers in Neurology, 2022
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Shoji Tsuji, Hiroshi Takashima   +12 more
doaj   +1 more source

RFC1-related disease molecular and clinical insights

, 2022
In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
Delatycki, M, Davies, K, Corben, LA, Szmulewicz, DJ, Lockhart, PJ   +4 more
core   +1 more source