Kulshreshtha Dinkar, Ganguly Jacky, Jog Mandar
Department of Clinical Neurological Sciences, University Hospital, London, Canada.
J Mov Disord. 2022 May;15(2):167-170. doi: 10.14802/jmd.21117. Epub 2022 Mar 22.
Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus. This condition is termed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. We present a patient with a genetically confirmed intronic repeat expansion in the RFC1 gene with a symptom complex not described previously.
复制因子复合体单元1（RFC1）基因的双等位基因内含子重复扩增最近被描述为迟发性共济失调的一个病因，伴有小脑、感觉通路和前庭器官的退化。这种病症被称为小脑性共济失调、神经病和前庭反射消失综合征（CANVAS）。自从发现这种新的基因突变以来，RFC1突变的表型谱不断扩大，不仅包括CANVAS，还包括缓慢进展性小脑共济失调、伴有慢性咳嗽的共济失调（ACC）、孤立性感觉神经病和多系统疾病。我们报告了一名患者，其RFC1基因经基因确认存在内含子重复扩增，具有先前未描述的症状复合体。
