Results 101 to 110 of about 3,165 (187)

Can CANVAS due to RFC1 biallelic expansions present with pure ataxia? [PDF]

Background Biallelic expansion of AAGGG in the replication factor complex subunit 1 (RFC1) was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, or SG) and vestibular areflexia syndrome (CANVAS).
Zis, P., Hadjivassiliou, M., Cortese, A., Dominik, N., Hoggard, N., Currò, R., Shanmugarajah, P., Grunewald, R.A., Beauchamp, N.   +8 more
core   +1 more source

Non-coding repeat analyses in patients with Parkinson’s disease

Frontiers in Neurology
IntroductionThe genetic etiology of Parkinson’s disease (PD) is complex; approximately 10% of patients with PD have various gene mutations that lead to familial forms of the disease.
Makito Hirano, Makoto Samukawa, Satoko Miyatake, Satoko Miyatake, Yuko Yamagishi, Chiharu Isono, Rino Yoshikawa, Kazumasa Saigoh, Atsushi Terayama, Yuji Higashimoto, Eriko Koshimizu, Takeshi Mizuguchi, Kanako Fujii, Yoshiyuki Mitsui, Naomichi Matsumoto, Naomichi Matsumoto, Naomichi Matsumoto, Yoshitaka Nagai   +17 more
doaj   +1 more source

CANVAS-oireyhtymä ja RFC1-tautikirjo

Kromosomissa 4 sijaitsevan RFC1-geenin patogeeninen toistojaksolaajentuma (AAGGG)exp sijaitsee proteiinia koodaavan alueen ulkopuolisella intronialueella, ja sen alleelitaajuus väestössämme on arviolta 0,5 % (eurooppalaisissa väestöissä keskimäärin 0,7 %)
Kytövuori, Laura, Sipilä, Jussi, Jokela, Manu   +2 more
core  

Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism

, 2022
BACKGROUND: Biallelic repeat expansions in RFC1 have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS).
Curro, Riccardo, Morris, Huw R, Record, Christopher J, Alsukhni, Rana Alnasser, Kaski, Diego, Reilly, Mary M, Rubin, John S, Cortese, Andrea, Iodice, Valeria   +8 more
core  

Molecular characterisation of cerebellar ataxia caused by a pentanucleotide repeat expansion in RFC1

© 2025 Kayli Christine DaviesPathogenic repeat expansions (RE) are an important disease mechanism that underlie a diverse group of more than 60 neurogenetic disorders of major clinical significance including Huntington disease, fragile X syndrome, and ...
Davies, Kayli Christine
core   +1 more source

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohortResearch in context

EBioMedicine
Summary: Background: While most sporadic adult-onset neurodegenerative diseases have only a minor monogenic component, given several recently identified late adult-onset ataxia genes, the genetic burden may be substantial in sporadic adult-onset ataxias.
Danique Beijer, David Mengel, Demet Önder, Carlo Wilke, Andreas Traschütz, Jennifer Faber, Dagmar Timmann, Sylvia Boesch, Stefan Vielhaber, Thomas Klopstock, Bart P. van de Warrenburg, Gabriella Silvestri, Christoph Kamm, Iselin Marie Wedding, Zofia Fleszar, Florian Harmuth, Claudia Dufke, Bernard Brais, Olaf Rieß, Ludger Schöls, Tobias Haack, Stephan Züchner, David Pellerin, Thomas Klockgether, Matthis Synofzik, Friedrich Erdlenbruch, Andreas Thieme, Judith van Gaalen, Christos Ganos, Jun-Suk Kang, Marcus Grobe-Einsler, Ilaria Giordano   +31 more
doaj   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons [PDF]

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within RFC1.
Cortese, A., Dijkstra, A.A., Suárez, A., Barmada, S.J., Maltby, Connor J., Suárez, Andrea, Van Deynze, Kinsey, Barmada, Sami J., Willey, Sydney, Mumm, Camille, Grudzien, Samantha J., Boyle, Alan P., Palacios, Y., Van Deynze, K., Todd, P.K., Dijkstra, Anke A., Cortese, Andrea, Todd, Peter K., Ndayisaba, A., Muiños, J., Maltby, C.J., Willey, S., Palacios, Yomira, Krans, A., Khurana, Vikram, Mumm, C., Krans, Amy, Muiños, Jessica, Grudzien, S.J., Boyle, A.P., Khurana, V., Asher, M., Ndayisaba, Alain, Asher, Melissa   +33 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing

Scientific Reports
Abnormal expansion of nucleotide repeats was first identified 34 years ago as a unique mutational mechanism. It is now linked to numerous neurogenetic disorders, several of which discovered only recently. The identification of these expansions has led to
Patricia Fergelot, Christophe Boury, Benjamin Penaud, Anne-Gaelle Giguet-Valard, Marie-Claire Vincent, Kevin Mouzat, Virginie Raclet, Marie-Pierre Baudier, Caroline Rooryck, Benoit Arveiler, Rémi Bellance, Claire Guissart, Cécilia Marelli, Olivier Lepais, Cyril Goizet, Giovanni Stevanin   +15 more
doaj   +1 more source