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NEUROLOGY 2006;67:620-625
© 2006 American Academy of Neurology

Autosomal dominant dystonia-plus with cerebral calcifications

Z. K. Wszolek, MD, Y. Baba, MD*, I. R. Mackenzie, MD, R. J. Uitti, MD, A. J. Strongosky, BS, D. F. Broderick, MD, M. C. Baker, BSc, S. Melquist, PhD, M. L. Hutton, PhD, Y. Tsuboi, MD*, J. E. Allanson, MD, J. Carr, MD*, A. Kumar, MD, S. M. Calne, RN, J. Miklossy, MD, P. L. McGeer, MD, D. B. Calne, DM and A. J. Stoessl, MD

From the Departments of Neurology (Z.K.W., Y.B., R.J.U., A.J. Strongosky, Y.T.) and Radiology (D.F.B.) and the Section of Neuroscience (M.C.B., S.M., M.L.H.), Mayo Clinic, Jacksonville, FL; the Department of Pathology (I.R.M.), the University of British Columbia, Vancouver, British Columbia, Canada; Eastern Ontario Regional Genetics Program (J.E.A.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; the Pacific Parkinson's Research Centre (J.C., A.K., S.M.C., D.B.C., A.J. Stoessl) and the Kinsmen Laboratory of Neurological Research (J.M., P.L.M.), University of British Columbia, Vancouver, British Columbia, Canada.

Address correspondence to Dr. Zbigniew K. Wszolek, Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224; e-mail: wszolek.zbigniew{at}mayo.edu

Objective: To report genealogic, clinical, imaging, neuropathologic, and genetic data from a Canadian kindred with dystonia and brain calcinosis originally described in 1985.

Methods: The authors performed clinical examinations and CT and PET studies of the head and analyzed blood samples. One autopsy was performed.

Results: The family tree was expanded to 166 individuals. No individuals were newly affected with dystonia, but postural tremor developed in two. The mean age at symptom onset was 19 years. Eight individuals had dystonia: three focal, one segmental, one multifocal, and three generalized. Seven displayed additional signs: chorea, intellectual decline, postural tremor, and dysarthria. CT studies were performed on five affected and 10 at-risk family members. All affected individuals and eight at-risk individuals had brain calcinosis. PET scans in two individuals showed reduced D1- and D2-receptor binding and reduced uptake of 6-[18F]fluoro-l-dopa. Autopsy of one affected individual showed extensive depositions of calcium in the basal ganglia, thalamus, cerebral white matter, and cerebellum. No specific immunohistochemistry abnormalities were seen. Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12.

Conclusions: The phenotype of this family consists of dystonia-plus syndrome. Brain calcium deposits vary in severity and distribution, suggesting that calcifications alone are not entirely responsible for the observed clinical signs. Further studies are needed to elucidate the etiology of this heterogeneous group of disorders.

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 August 22 issue to find the title link for this article.

*Present addresses: The Department of Neurology, Fukuoka University School of Medicine, Fukuoka, Japan (Y.B. and Y.T.) and the Division of Neurology, Department of Internal Medicine, University of Stellenbosch, Tygerberg, South Africa (J.C.).

Supported in part by grants from the National Institutes of Health/National Institute of Neurological Disorders and Stroke/Udall Center of Excellence for Parkinson's Disease Research, Mayo Clinic and Mayo Foundation, and Dystonia Medical Research Foundation. The PET studies were supported by the Canadian Institutes of Health Research and the Pacific Parkinson's Research Institute. Dr. Stoessl was supported by a Canada Research Chair. Drs. Tsuboi and Baba are recipients of Robert and Clarice Smith fellowship awards.

Disclosure: The authors report no conflicts of interest.

Parts of this study were presented at the 4th annual meeting of the Udall Center of Excellence for Parkinson's Disease Research, Boston, MA, August 11 to 13, 2002, and at the 7th International Congress of Parkinson's Disease and Movement Disorders, Miami, FL, November 10 to 14, 2002.

Received November 1, 2005. Accepted in final form April 14, 2006.




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