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Joint congress Association of British Neurologists and the Neurological Association of South Africa, University of Cape Town, 29 January – 1 February 2003
001 A SYSTEMATIC AND STRUCTURED APPROACH TO THE INVESTIGATION OF ATAXIA
P.F. Worth1, N.W. Wood2. 1National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; 2Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London WC1N 3BG, UK
Ataxia is a common and often prominent feature of a large number of disparate neurological conditions, both hereditary and acquired. Ataxia may result from a primary neurological disorder or may present as part of a broader multisystem disease, eg secondary to a metabolic abnormality. Therefore, establishing the correct diagnosis and aetiology often presents the clinician with a difficult challenge.
In this paper, we highlight particularly useful and important features of the history and clinical examination of patients with ataxia. We argue that the single most informative factor that guides the clinical approach is the age at disease onset. This establishes a framework for subsequent analysis of the clinical problem. Other important factors include family history, ethnic origin, rate of progression, and the association of other symptoms and signs. Each feature may itself point towards a particular diagnosis, or may help to direct and prioritise the large number of diagnostic tests and special investigations available in order to simplify what can be a lengthy and expensive diagnostic process. We give special attention to the problem of hereditary ataxia; if this is suspected, we suggest a means of prioritising genetic tests, thereby minimising costs. We hope to offer a practical and systematic strategy, if not an algorithm, which will be of use to both the specialist and general neurologist alike.
002 THERAPEUTIC ENDEAVOURS IN MUSCULAR DYSTROPHY: THE HOPE VERSUS THE HYPE
V. Dubowitz. Dubowitz Neuromuscular Unit, Dept of Paediatrics, ICSM Hammersmith Campus, Ducane Rd, London W12 ONN, UK
A critical review is provided of the various therapeutic efforts in muscular dystrophy over the past decade, covering cell transfer, gene therapy, including gene replacement and more recently gene …