Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects

被引:29
作者
Cortese, Andrea [1 ,2 ]
Curro', Riccardo [2 ]
Vegezzi, Elisa [2 ,3 ]
Yau, Wai Yan [1 ]
Houlden, Henry [1 ]
Reilly, Mary M. [1 ]
机构
[1] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[2] Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
[3] IRCCS Mondino Fdn, Pavia, Lombardia, Italy
基金
英国医学研究理事会; 英国惠康基金;
关键词
cerebellar ataxia; neuropathy; neurogenetics; REPEAT EXPANSION; COMMON-CAUSE; RFC1; IMPAIRMENT; MUTATION; FEATURES;
D O I
10.1136/practneurol-2020-002822
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) typically presents in middle life with a combination of neuropathy, ataxia and vestibular disease, with patients reporting progressive imbalance, oscillopsia, sensory disturbance and a dry cough. Examination identifies a sensory neuropathy or neuronopathy and bilaterally impaired vestibulo-ocular reflex. The underlying genetic basis is of biallelic AAGGG expansions in the second intron of replication factor complex subunit 1 (RFC1). The frequency and phenotype spectrum of RFC1 disease is expanding, ranging from typical CANVAS to site-restricted variants affecting the sensory nerves, cerebellum and/or the vestibular system. Given the wide phenotype spectrum of RFC1, the differential diagnosis is broad. RFC1 disease due to biallelic AAGGG expansions is probably the most common cause of recessive ataxia. The key to suspecting the disease (and prompt genetic testing) is a thorough clinical examination assessing the three affected systems and noting the presence of chronic cough.
引用
收藏
页码:14 / +
页数:7
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