Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey

Abstract Background Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), a relatively common cause of late-onset progressive ataxia, is a genetic disease characterised by biallelic pentanucleotide AAGGG repeat expansion in intron 2 of the replication factor complex subunit 1 gen...

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Bibliographic Details
Published in:BMC Neurology
Main Authors: Figen Gökçay, Gülcan Neşem Baskan, Irmak Şahbaz, Müge Kovancılar Koç, A. Nazlı Başak, Nese Celebisoy
Format: Article
Language:English
Published: BMC 2024-09-01
Subjects:
Cerebellar ataxia
Neuropathy
Vestibular areflexia
Head impulse test
Cough
RFC1
Online Access:https://doi.org/10.1186/s12883-024-03782-1

Internet

https://doi.org/10.1186/s12883-024-03782-1

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