Results 171 to 180 of about 4,949 (187)
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[Peripheral Neuropathy in RFC1 CANVAS/Spectrum Disorders].
Brain and nerve = Shinkei kenkyu no shinpo, 2022Recently, the biallelic expansion of an AAGGG repeat in RFC1 was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome. This mutation has also been reported in more selected nervous disorders, including pure sensory axonal polyneuropathy.
Yusuke, Osaki, Yuishin, Izumi
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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late‐onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG/ACAGG repeat expansion (AAGGG‐exp/ACAGG‐exp) in RFC1. The recent identification of patients with CANVAS exhibiting compound heterozygosity for AAGGG‐exp and truncating variants supports the loss‐
Taishi Wada +24 more
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Multisystemic RFC1 -Related Disorder
Neurology Clinical Practice, 2023The RFC1 spectrum has become considerably expanded as multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) have started to be unveiled, although many still require clinical replication. Here, we aimed to clinically characterize a cohort of RFC1-positive patients by addressing both classic ...
Maria João Malaquias +22 more
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Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy
Neurology, 2023Bilateral vestibulopathy (BVP) is a chronic debilitating neurologic disorder with no monogenic cause established so far despite familiar presentations. We hypothesized that replication factor complex subunit 1 (RFC1) repeat expansions might present a recurrent monogenic cause of BVP.The study involved RFC1 screening and in-depth neurologic, vestibulo ...
Andreas Traschütz +10 more
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AbstractBackgroundRFC1‐related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage.ObjectivesThe objectives were to determine the SC structural signature in RFC1‐related ...
Thiago J.R. Rezende +11 more
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[Motor Neuron Involvement in RFC1 CANVAS/Spectrum Disorders].
Brain and nerve = Shinkei kenkyu no shinpo, 2022Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by the triad of cerebellar ataxia, bilateral vestibular impairment, and sensory neuropathy. The responsible anatomical region for the sensory disturbance in CANVAS is reportedly the dorsal root ganglion, which suggests neuronopathy rather than neuropathy as ...
Yosuke, Miyaji +2 more
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Vestibular function testing in patients with RFC1 mutations
Journal of Neurology, 2021Gábor M. Halmágyi, David J. Szmulewicz
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Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
Parkinsonism & Related Disorders, 2022Laura Herrmann +11 more
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[RFC1 CANVAS/Spectrum Disorder: Historical Details and Clinical Diversity].
Brain and nerve = Shinkei kenkyu no shinpo, 2022Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) refers to a multi-system neurodegenerative disorder, with middle-age onset, which mainly presents with progressive imbalance. Imbalance is attributable to isolated or combined impairment of the cerebellar, proprioceptive, and vestibular systems.
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Repeat Expansions of RFC1 in Refractory Chronic Cough
Chest, 2023Laurent Guilleminault +7 more
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