David J Szmulewicz1, Leslie Roberts1, Catriona A McLean1, Hamish G MacDougall1, G Michael Halmagyi1, Elsdon Storey1. 1. University of Melbourne (DJS), Royal Victorian Eye & Ear Hospital, Melbourne, Australia; Department of Neuroscience (LR), St Vincent's Hospital, Melbourne, Australia; Department of Anatomical Pathology (CAL), Alfred Hospital, Melbourne, Australia; Vestibular Research Laboratory (HGM), School of Psychology, University of Sydney, Australia; Department of Neuroscience (GMH), Monash University, Melbourne, Australia; and Department of Neurology (ES), Royal Prince Alfred Hospital, Sydney, Australia.
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 further define this syndrome in terms of its likely phenotype. SUMMARY: We propose staged diagnostic criteria based on the identified pathology in CANVAS. We envisage that these criteria will aid the clinician in diagnosing CANVAS and the researcher in further elucidating this complex disorder.
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 further define this syndrome in terms of its likely phenotype. SUMMARY: We propose staged diagnostic criteria based on the identified pathology in CANVAS. We envisage that these criteria will aid the clinician in diagnosing CANVAS and the researcher in further elucidating this complex disorder.
Authors: David J Szmulewicz; John A Waterston; Hamish G MacDougall; Stuart Mossman; Andrew M Chancellor; Catriona A McLean; Saumil Merchant; Peter Patrikios; G Michael Halmagyi; Elsdon Storey Journal: Ann N Y Acad Sci Date: 2011-09 Impact factor: 5.691
Authors: D J Szmulewicz; J A Waterston; G M Halmagyi; S Mossman; A M Chancellor; C A McLean; E Storey Journal: Neurology Date: 2011-05-31 Impact factor: 9.910
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