Results 151 to 160 of about 3,165 (187)
RFC1 Repeat Expansions: A Recurrent Cause of Sensory and Autonomic Neuropathy With Cough and Ataxia
European Journal of Neurology, 2022 BACKGROUND: Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, vestibular
Danique Beijer +2 more
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RFC1 Expansions Are a Common Cause of Idiopathic Sensory Neuropathy.
Brain, 2021 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 ...
Marina Grandis +2 more
exaly +1 more source
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Dysautonomia in RFC1-Related Disorder: Clinical and Neurophysiological Evaluation
Clinical Neurophysiology, 2022To 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.
Alberto Rolim Muro Martinez +2 more
exaly +3 more sources
Hypothalamic Atrophy in CANVAS/RFC1
Journal of NeurologyCerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late-onset multisystem disorder related to the RFC1 gene. Despite evidence of dysautonomia and sleep disturbances, hypothalamic involvement is unknown.We aimed to investigate hypothalamic volumetry in CANVAS/RFC1.We analyzed 19 CANVAS/RFC1 patients and 19 healthy controls ...
Marcondes C França +2 more
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Nigrostriatal dysfunction in RFC1-related disorder/CANVAS
Parkinsonism & Related Disorders, 2023Parkinsonism 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 +9 more
openaire +2 more sources
RFC1 CANVAS: the expanding phenotype
Journal of Neurology, Neurosurgery & Psychiatry, 2021In 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 ...
openaire +2 more sources
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
CerebellumRFC1-related disease, which includes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), is a late-onset neurodegenerative disorder primarily caused by biallelic AAGGG(n) repeat expansions (RE) in RFC1. The RFC1 locus is highly polymorphic, with multiple pathogenic and non-pathogenic repeat motifs identified.
Kate Pope, Greta Gillies, Kayli C Davies
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[Cerebellar Ataxia in RFC1 Spectrum Disorders].
Brain and nerve = Shinkei kenkyu no shinpo, 2022Replication 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
openaire +1 more source