Results 11 to 20 of about 3,165 (187)

Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease [PDF]

npj Parkinson's Disease, 2022
An intronic expansion (AAGGG)exp in the RFC1 gene has recently been shown to cause recessively inherited cerebellar ataxia, neuropathy, and vestibular areflexia syndrome and, furthermore, a few patients with ataxia and parkinsonism have been reported. We
Laura Kytövuori, Jussi Sipilä, Hiroshi Doi, Anri Hurme-Niiranen, Ari Siitonen, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Fumiaki Tanaka, Kari Majamaa   +9 more
doaj   +6 more sources

Repeat expansions in RFC1 gene in refractory chronic cough [PDF]

ERJ Open Research
Introduction Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity.
Barnaby Hirons, Peter S.P. Cho, Katie Rhatigan, Joe Shaw, Riccardo Curro, Bianca Rugginini, Natalia Dominik, Richard D. Turner, Ewan Mackay, James H. Hull, Hisham Abubakar-Waziri, Harini Kesavan, Caroline J. Jolley, Robert D. Hadden, Andrea Cortese, Surinder S. Birring   +15 more
doaj   +5 more sources

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease [PDF]

Neurology, 2021
To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).Multimodal RFC1 repeat screening (PCR, Southern ...
Traschuetz, Andreas, Cortese, Andrea, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A, Sturm, Marc, Haack, Tobias B, Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P, Reich, Selina, Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Dominik, Natalia, Basak, A Nazli, Synofzik, Matthis, Group, RFC1 Study, Barut, Banu Özen, Bilgic, Basar, Boz, Cavit, Cauquil, Cécile, Deininger, Natalie, Dufke, Claudia, Elibol, Bülent, Faber, Jennifer, Erbas, Furkan, Ertan, Sibel, Genc, Fatma, Giegling, Ina, Parman, Yesim, Rossi, Salvatore, Salcin, Celal, Tan, Meliha, Taştekin, Hilal, Tranchant, Christine, Jacobi, Heike, Uygun, Günes, Yassa, Özge Yagcioglu, Hartmann, Annette M, Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni   +51 more
core   +14 more sources

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis [PDF]

Journal of the Neurological Sciences, 2021
A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common ...
Abramzon Y., Dewan R., Cortese A., Resnick S., Ferrucci L., Houlden H., Traynor B. J.   +6 more
core   +7 more sources

Association of biallelic RFC1 expansion with early‐onset Parkinson's disease [PDF]

European Journal of Neurology, 2023
AbstractBackground and PurposeThe biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late‐onset ataxia. The clinical spectrum of RFC1 disease has expanded since the first identification of biallelic (AAGGG)exp ...
Pauli Ylikotila, Jussi Sipilä, Tiina Alapirtti, Riitta Ahmasalo, Eriko Koshimizu, Satoko Miyatake, Anri Hurme‐Niiranen, Ari Siitonen, Hiroshi Doi, Fumiaki Tanaka, Naomichi Matsumoto, Kari Majamaa, Laura Kytövuori   +12 more
openaire   +6 more sources

RFC1: Motifs and phenotypes

Revue Neurologique
Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated.
V. Delforge, C. Tard, J.-B. Davion, K. Dujardin, A. Wissocq, C.-M. Dhaenens, E. Mutez, V. Huin   +7 more
core   +4 more sources

RFC1 expansions are a common cause of idiopathic sensory neuropathy [PDF]

Brain, 2021
Abstract After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin.
Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stephanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laura, Alexander M Rossor, Hadi Manji, Michael P Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas J Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M Bronstein, Henry Houlden, Mary M Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese   +40 more
openaire   +7 more sources

Pseudodominance in RFC1-Spectrum Disorder

The Cerebellum
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and disease spectrum is an autosomal recessive disorder associated with biallelic repeat expansion (RE) in the RFC1 gene. A high carrier frequency in the healthy population determines the possibility of having affected members in two consecutive generations.
Falcone, Grazia Maria Igea, Tessa, Alessandra, Arena, Ignazio Giuseppe, Barghigiani, Melissa, Migliorato, Alba, Incensi, Alex, Rodolico, Carmelo, Donadio, Vincenzo, Santorelli, Filippo Maria, Musumeci, Olimpia   +9 more
openaire   +5 more sources

Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease

npj Parkinson's Disease
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie ...
Peng Liu, Fan Zhang, Xinhui Chen, Xiaosheng Zheng, Miao Chen, Zhiru Lin, Shuqi Chen, Lebo Wang, Xinchen Wang, Nan Jin, Chenxin Ying, Fei Xie, Bo Wang, Sheng Wu, Zhidong Cen, Wei Luo   +15 more
doaj   +2 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