Results 11 to 20 of about 4,949 (187)

CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy

Scientific Reports, 2023
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) has recently been attributed to biallelic repeat expansions in RFC1. More recently, the disease entity has expanded to atypical phenotypes, including chronic neuropathy without ...
Makito Hirano, Motoi Kuwahara, Yuko Yamagishi, Makoto Samukawa, Kanako Fujii, Shoko Yamashita, Masahiro Ando, Nobuyuki Oka, Mamoru Nagano, Taro Matsui, Toshihide Takeuchi, Kazumasa Saigoh, Susumu Kusunoki, Hiroshi Takashima, Yoshitaka Nagai   +14 more
doaj   +3 more sources

Profiling complex repeat expansions in RFC1 in Parkinson’s disease

npj Parkinson's Disease
A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley   +20 more
doaj   +4 more sources

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Alm V, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +2 more sources

Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease. [PDF]

Clin Genet
Biallelic pathogenic expansions in RFC1 contribute to the genetic etiology of PD, with a frequency similar to that of other known autosomal recessive PD genes. RFC1‐positive PD is currently not clinically distinguishable from RFC1‐negative PD, but genetic background may play a role in future therapies or other interventions.
Kovanda A, Šušmelj L, Jaklič H, Lukežič T, Maver A, Petrovic I, Miskovic ND, Svetel M, Rački V, Vuletič V, Novakovic I, Peterlin B.   +11 more
europepmc   +2 more sources

Nerve ultrasound abnormality in <i>RFC1</i> positive isolated sensory neuropathy is milder than in the full <i>RFC1</i> canvas phenotype. [PDF]

Clin Neurophysiol Pract
Pelosi L, Garvey A, Kao J, Roxburgh R.
europepmc   +2 more sources

Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder. [PDF]

Mov Disord Clin Pract
Abstract Background The progression of brain damage in CANVAS/RFC1 remains unclear. Objective To describe longitudinal brain changes in CANVAS/RFC1. Methods Ten RFC1‐positive patients and 10 controls underwent 3T‐MRI scans 2 years apart. We analyzed cerebral gray and white matter using FreeSurfer and DTI multiatlas, the cerebellum with CerebNet, and ...
Lobo CC, Rezende TJR, Pimentel-Silva LR, Jarola GM, Santos NBS, da Silva Schmitt G, Matos PCAAP, Lima FD, Martinez ARM, Barsottini OGP, Pedroso JL, Marques W, França MC.   +12 more
europepmc   +2 more sources

Sural/Radial Amplitude Ratio: A Useful Tool to Diagnose Non-Length-Dependent Neuropathy. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Patients with non‐length‐dependent neuropathy (NLDN) exhibit reduced sensory nerve action potential (SNAP) amplitudes in both lower and upper limbs. This study aimed to determine a threshold for the sural/radial amplitude ratio (SRAR) suggestive of NLDN.
Pegat A, Gavoille A, Cluse F, Moussy M, Petiot P, Camdessanché JP, Bouhour F.   +6 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 confirmed by
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