Results 161 to 170 of about 3,165 (187)
Some of the next articles are maybe not open access.
Brain Structural Signature of
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 +13 more
openaire +2 more sources
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Journal of Neurology, 2021Cerebellar 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
Montaut, Solveig +25 more
openaire +2 more sources
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
openaire +3 more sources
[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
openaire +1 more source
Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease
Neurobiology of Aging, 2009We examined polymorphisms in reduced folate carrier gene (RFC1) and methylenetetrahydrofolate reductase gene (MTHFR) for association with sporadic AD (SAD) in Chinese population. Significant associations of RFC1 A80G G allele and GG genotype with SAD (p=0.008, OR=1.312, 95%CI=1.072-1.605, and p=0.042, OR=1.383, 95%CI=1.012-1.890) were found.
Xiu-Hua, Bi +3 more
openaire +2 more sources
Vestibular function testing in patients with RFC1 mutations
Journal of Neurology, 2021Gábor M. Halmágyi, David J. Szmulewicz
openaire +2 more sources
CANVAS as example of genetic and clinical complexity of RFC1-related disorders
Neurologia i Neurochirurgia PolskaCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a late-onset, autosomal recessive neurodegenerative disorder characterised by the triad of cerebellar ataxia, bilateral vestibular areflexia, and sensory neuropathy.
Tomczuk, Filip +2 more
openaire +2 more sources
[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
openaire +1 more source
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
Parkinsonism & Related Disorders, 2022Laura Herrmann +11 more
openaire +2 more sources
The Strange Case of the Multiple MRI Phenotypes of RFC1 Mutation
The Cerebellum, 2022Mario, Mascalchi, Filippo M, Santorelli
openaire +2 more sources