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 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
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DOI: 10.1111/ene.15310
Abstract: 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, and vestibular… read more here.
Keywords: sensory autonomic; cough; repeat; cause ... See more keywords
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.986504
Abstract: Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies. The aim of this study was to… read more here.
Keywords: hereditary sensory; sensory autonomic; repeat; rfc1 repeat ... See more keywords