Brain Advance Access published online on March 3, 2004
Brain, doi:10.1093/brain/awh139
© 2004 by Guarantors of Brain
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Article
1 Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia
* Corresponding author. E-mail: elsdon.storey{at}med.monash.edu.au.
Received 30 July 2003
; revised 26 December 2003
; accepted 8 January 2004
We describe a pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia (SCA) in 14 personally examined affected members. A remarkable observation is dentate nucleus calcification, producing a low signal on MRI sequences. Unusually for an SCA, dysarthria is typically the initial manifestation. Mild pyramidal signs and hypermetric saccades are noted in some. Its distinguishing clinical features, each present in a majority of affected persons, are palatal tremor, and a form of dysphonia resembling spasmodic dysphonia. Repeat expansion detection failed to identify either CAG/CTG or ATTCT/AGAAT repeat expansions segregating with the disease in this family. The testable SCA mutations have been excluded. On linkage analysis, the locus maps to chromosome 11, which rules out all the remaining mapped SCAs except for SCA5. While locus homogeneity with SCA5 is not formally excluded, we consider it rather unlikely on phenotypic grounds, and propose that this condition may represent an addition to the group of neurogenetic disorders subsumed under the rubric SCA. The International Nomenclature Committee has made a provisional assignment of ‘SCA20’, although firm designation will have to await a definite molecular distinction from SCA5.
Keywords: autosomal dominant spinocerebellar ataxia; spinocerebellar ataxia type 20; dentate nucleus calcification; palatal tremor; linkage analysis
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
2 Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia; Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia
3 Genetics and Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, Australia
4 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
5 Department of Otolaryngology, Alfred Hospital, Melbourne, Australia
6 Department of Paediatrics, University of Melbourne, Melbourne, Australia; Australian Genome Research Facility, Walter and Eliza Hall Institute, Melbourne, Australia
7 Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia; Department of Medicine (Neurosciences), Monash University (Alfred Hospital Campus), Melbourne, Australia; Department of Neurosciences, Alfred Hospital, Melbourne, Victoria 3004, Australia
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