Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy
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DOI: 10.1002/ana.25902
Abstract: A recessive biallelic repeat expansion, (AAGGG)exp, in the RFC1 gene has been reported to be a frequent cause of late‐onset ataxia. For cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), the recessive biallelic (AAGGG)exp genotype… read more here.
Keywords: aaggg; expansion; system atrophy; related multiple ... See more keywords
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
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DOI: 10.1007/s00415-024-12229-z
Abstract: The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopathic cases. Here,… read more here.
Keywords: downbeat nystagmus; rfc1 repeat; biallelic rfc1; rfc1 ... See more keywords
RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum
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DOI: 10.1038/s41467-025-60775-5
Abstract: DNA replication and repair are basic yet essential molecular processes for all cells. RFC1 encodes the largest subunit of the Replication Factor C (RFC), which is a clamp-loader during DNA replication and repair. Intronic repeat… read more here.
Keywords: regulates expansion; neural progenitors; expansion neural; expansion ... See more keywords
Association of biallelic RFC1 expansion with early‐onset Parkinson's disease
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DOI: 10.1111/ene.15717
Abstract: The 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… read more here.
Keywords: rfc1; association biallelic; disease; parkinson disease ... See more keywords
Repeat expansions in RFC1 gene in refractory chronic cough
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DOI: 10.1183/23120541.00584-2024
Abstract: Introduction Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity. RFC1 disorders are genetic neurodegenerative conditions caused by biallelic RFC1 repeat expansion sequences, commonly presenting with cough,… read more here.
Keywords: chronic cough; refractory chronic; rfc1; repeat expansions ... See more keywords