Results 161 to 170 of about 4,949 (187)

Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches. [PDF]

Mov Disord
Rossi M, Stephen CD, Damásio J, Pedroso JL, Kuo SH, Lin CR, Ojo O, El-Jaafary S, Lee WW, Madoev H, Barsottini OGP, Srivastava AK, Klein C, van de Warrenburg BP.   +13 more
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RFC1, KCNA6 and DIAPH1: Investigating the functional consequences

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Nigrostriatal dysfunction in RFC1-related disorder/CANVAS

Parkinsonism & Related Disorders, 2023
Parkinsonism is now recognized as an additional feature in RFC1/CANVAS syndrome; however, no systematic evaluation of nigrostriatal dopaminergic function has been published so far.This is an observational, single-center study, which analyzed 13 patients with molecular confirmation of RFC1/CANVAS. Disease severity was assessed with the SARA scale.
Maria Paula C. Azevedo, Camila C. Lobo, Gabriel S. Schmitt, Paula C.A.A.P. Matos, Orlando G.P. Barsottini, José Luiz Pedroso, Wilson Marques, Juliana Pasquotto Souza, Bárbara J. Amorim, Marcondes C. França   +9 more
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Brain Structural Signature of RFC1‐Related Disorder

Movement Disorders, 2021
AbstractBackgroundThe cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late‐onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional reports have expanded on the phenotypic manifestations related to RFC1, although little is known
Paula Camila A.A.P. Matos, Thiago J.R. Rezende, Gabriel S. Schmitt, Luciana Cardoso Bonadia, Fabiano Reis, Alberto R.M. Martinez, Fabrício D. de Lima, Manoella Guerra de Albuquerque Bueno, Pedro José Tomaselli, Fernando Cendes, José Luiz Pedroso, Orlando G.P. Barsottini, Wilson Marques, MarcondesCavalcante França   +13 more
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RFC1CANVAS: the expanding phenotype

Journal of Neurology, Neurosurgery & Psychiatry, 2021
In 2019, a recessive pentanucleotide intronic repeat expansion in the RFC1 gene was identified as the cause of the late-onset neurodegenerative disease cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).1 Subsequent detailed genotype/phenotype studies have confirmed the main phenotype as a large fibre sensory ataxic neuropathy with ...
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Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation

Clinical Neurophysiology, 2022
To characterize and quantify autonomic involvement in patients with RFC1-related disorder of adult-onset cerebellar ataxia and idiopathic sensory neuropathy.We enrolled 16 subjects with biallelic RFC1 (AAGGG)n expansions and 16 age and sex-matched healthy controls that underwent comprehensive clinical and neurophysiological evaluation.
Gabriel da Silva, Schmitt, Fabrício Diniz de, Lima, Paula Camila A A P, Matos, Alberto R M, Martinez, Carelis, González-Salazar, Anamarli, Nucci, Wilson, Marques, Orlando Graziani P, Barsottini, José Luiz, Pedroso, Marcondes Cavalcante, França   +9 more
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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Journal of Neurology, 2021
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion repeat in the RFC1 gene. Our objective was to assess its prevalence in a French cohort of patients with
Solveig Montaut, Nadège Diedhiou, Pauline Fahrer, Cécilia Marelli, Benoit Lhermitte, Laura Robelin, Marie Claire Vincent, Lucas Corti, Guillaume Taieb, Odile Gebus, Gabrielle Rudolf, Julien Tarabeux, Nicolas Dondaine, Matthieu Canuet, Marilyne Almeras, Mehdi Benkirane, Lise Larrieu, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Andoni Echaniz-Laguna, Cécile Cauquil, Béatrice Lannes, Jamel Chelly, Mathieu Anheim, Hélène Puccio, Christine Tranchant   +25 more
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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
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[Cerebellar Ataxia in RFC1 Spectrum Disorders].

Brain and nerve = Shinkei kenkyu no shinpo, 2022
Replication factor C subunit 1 (RFC1) spectrum disorders are characterized by a variety of symptoms, including cerebellar ataxia, sensory neuropathy, and vestibular dysfunction, which may occur singularly or in various combinations. RFC1 spectrum disorders may mimic the clinical manifestations and imaging findings of multiple system atrophy.
Masahiro, Ando, Hiroshi, Takashima
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