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. 2020 Feb 10;143(2):480–490. doi: 10.1093/brain/awz418

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© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Involvement of peripheral nerve, cerebellum and vestibular system in RFC1 biallelic expansion. (A) Symptoms and signs. Clinical involvement of peripheral nerve (PN), vestibular system (VS) and cerebellum (CBM) is defined as follows: (i) peripheral nerve: sensory neuropathy: sensory symptoms (loss of feeling, paraesthesia, dysesthesia, neuropathic pain) and/or abnormal sensory examination including sensory ataxia; (ii) vestibular system: bilateral vestibulopathy: presence of head movement-induced oscillopsia and/or abnormal head impulse test; (iii) cerebellum: cerebellar dysfunction: cerebellar dysarthria and/or dysphagia, abnormal eye movements (nystagmus, dysmetric saccades, broken pursuits). (B) Symptoms, signs and investigations. In addition to the clinical involvement as defined in A, investigational involvement of the three main system affected in CANVAS was further identified by (i) peripheral nerve: sensory neuropathy/neuronopathy on nerve conduction studies; (ii) vestibular system: bilaterally abnormal video head impulse test, bithermal caloric or motorized rotational tests; and (iii) cerebellum: cerebellar atrophy on brain MRI. *Abnormal in 55 of 59 (93%) with clinical information available. **Abnormal in 69 of 74 (93%) with clinical and/or investigational information available.