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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Autosomal dominant dystonia-plus with cerebral calcifications
Neurology, Volume 67, No. 4, Year 2006
Notification
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Description
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. Copyright © 2006 by AAN Enterprises, Inc.
Authors & Co-Authors
Wszołek, Zbigniew K.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Baba, Yasuhiko
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Japan, Fukuoka
Fukuoka University
Mackenzie, Ian R.
Canada, Vancouver
The University of British Columbia
Uitti, Ryan J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Strongosky, Audrey J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Broderick, Daniel F.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Baker, Matt C.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Melquist, Stacey
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Hutton, Michael L.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Tsuboi, Yoshio
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Japan, Fukuoka
Fukuoka University
Allanson, Judith E.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Carr, Jonathan A.
Canada, Vancouver
The University of British Columbia
South Africa, Stellenbosch
Stellenbosch University
Kumar, Ajit
Canada, Vancouver
The University of British Columbia
Calne, Susan M.
Canada, Vancouver
The University of British Columbia
Miklossy, Judith
Canada, Vancouver
The University of British Columbia
McGeer, Patrick L.
Canada, Vancouver
The University of British Columbia
Calne, Donald B.
Canada, Vancouver
The University of British Columbia
Stoessl, A. Jon
Canada, Vancouver
The University of British Columbia
Statistics
Citations: 35
Authors: 18
Affiliations: 5
Identifiers
Doi:
10.1212/01.wnl.0000230141.40784.09
ISSN:
00283878
Research Areas
Genetics And Genomics