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Byline: H.J. Schelhaas (1), P.F. Ippel (3), G. Hageman (1), R.J. Sinke (3), E.N. van der Laan (2), F.A. Beemer (3) Keywords: Key words Spinocerebellar ataxia; Myoclonus; Cognitive impairment; Wisconsin Card Sorting Test Abstract: The autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders characterised by progressive cerebellar dysfunction in combination with a variety of other associative features. Since 1993 ADCAs have been increasingly characterised in terms of their genetic mutation and are referred to as spinocerebellar ataxias (SCAs). Some families with ADCA cannot be assigned to any of the known genotypes, which implies further genetic heterogeneity. We investigated the clinical symptoms of 12 patients of a four-generation family with ADCA and carried out mutation and genetic linkage studies. The family showed a relatively mild cerebellar ataxic syndrome with congitive impairment, poor performance on the Wisconsin Card Sorting Test, myoclonus, and a postural irregular tremor of slow frequency. Age at disease onset and severity of cerebellar signs and symptoms suggest anticipation. The genetic loci implicated in ADCA were excluded by mutation analyses (SCA 1,2,3,6,7,8,12) and genetic linkage (SCA 4,5,6,10,11). We conclude that this family represents a clinically and genetically distinct form of SCA. Author Affiliation: (1) Department of Neurology, Medical Spectrum Twente Enschede, The Netherlands, NL (2) Department of Medical Psychology, Medical Spectrum Twente Enschede, The Netherlands, NL (3) Department of Medical Genetics, University Medical Centre Utrecht, The Netherlands, NL Article note: Received: 31 March 2000 / Received in revised form: 14 July 2000 / Accepted: 12 August 2000