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Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

From Hunter Genetics (Dr. Dudding), Waratah, Newcastle, and The University of Newcastle; Laboratory Genetics (Dr. Friend), Women’s and Children’s Hospital North Adelaide; Centre for Mental Health Studies (Dr. Schofield), The University of Newcastle; Neuropsychiatry Service (Dr. Lee), Hunter Mental Health and Psychology Department, and The University of Newcastle; John Hunter Children’s Hospital (Dr. Wilkinson), Newcastle, and The University of Newcastle; and ARC Special Research Centre for the Molecular Genetics of Development (Dr. Richards), School of Molecular and Biomedical Science, The University of Adelaide, Australia.

Address correspondence and reprint requests to Dr. Tracy Dudding, Hunter Genetics, PO Box 84, Waratah, Newcastle, NSW, Australia; e-mail: tracy.dudding{at}hunter.health.nsw.gov.au

Background: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia (NPCA).

Methods: The authors ascertained and clinically characterized a four-generation pedigree segregating an autosomal dominant type of congenital nonprogressive cerebellar ataxia associated with cognitive impairment. Following the exclusion of several SCA localizations (SCA-1, 2, 3, 4, 5, 6, 7, 8, 10, 12, 17, IOSCA, and DRPLA), a genome-wide linkage study was performed.

Results: Examination of the family showed that all affected members had gait ataxia and cognitive disability with variable features of dysarthria, dysmetria, dysdiadochokinesia, nystagmus, dystonic movements, and cerebellar hypoplasia on imaging. Clinical signs of pyramidal tract dysfunction and sensory changes were absent. A genome-wide search in this family detected linkage to chromosome 3p with a maximum two-point lod score of 4.26 at D3S3630. This localization to the pter is distal to D3S1304, as defined by a recombination event. This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1620 (approximately 8 cM).

Conclusion: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter.

Received February 5, 2004. Accepted in final form August 31, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 28 issue to find the title link for this article.

*These authors contributed equally to this publication.

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