Journal article

Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

DJ Szmulewicz, L Roberts, CA McLean, HG MacDougall, G Michael Halmagyi, E Storey

Neurology Clinical Practice | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016

Abstract

Purpose of review: Diagnosis of ataxic disorders is an important clinical challenge upon which prognostication, management, patient solace, and, above all, the hope of future treatment all rely. Heritable diseases and the possibility of affected offspring carry the added burden of portending adverse health, social and financial ramifications. Recent findings: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited multisystem ataxia compromising cerebellar, vestibular, and sensory function. It is not uncommon, but despite early attempts the genetic defect is yet to be identified. As the search for the causative gene continues, we have found it useful to f..

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University of Melbourne Researchers