Neurologic Clinics
Volume 19 Number 3 August 2001 Movement Disorders Ataxia and hereditary disorders Henry Paulson MD, PhD Zakaria Ammache MD From the Department of Neurology, University of Iowa College of Medicine Iowa City, Iowa Address reprint requests to, Henry Paulson MD, PhD, Assistant Professor, Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242-1101, e-mail: henry-paulson@uiowa.deu Inherited Ataxias The last decade has seen great changes in the diagnosis of inherited ataxias. Previously mysterious diseases are now recognized to be caused by specific mutations for which genetic screening is readily available. In many cases, the discovery of the molecular basis has broadened our definition of the possible clinical manifestations of particular inherited ataxias. Moreover, the type of mutation underlying the more common forms of inherited ataxiaunstable trinucleotide repeat expansionshelps to explain some of the unusual features of these diseases. In this article the authors discuss recent genetic advances in ataxia. The authors' aim is not to present an exhaustive summary, but rather to provide guidance in evaluating ataxia, particularly with respect to recent molecular genetic findings. Ataxia and Genetics: Asking the Right Questions The Online Mendelian Inheritance in Man, or OMIM ( | |
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