Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. (28th January 2015)

• Record Type: Journal Article
• Authors: Baizabal‐Carvallo, J. F.; Xia, G.; Botros, P.; Laguna, J.; Ashizawa, T.; Jankovic, J.
• Is Part Of: Acta neurologica Scandinavica. Volume 132:Number 2(2015:Aug.)
• Page Start: 139
• Page End: 142
• Publication Date: 2015-01-28
• Subjects: Neurology -- Periodicals; 616.8
• DOI: 10.1111/ane.12371
• Languages: English
• ISSNs: 0001-6314

Abstract

<abstract abstract-type="main" id="ane12371-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ane12371-sec-0001" sec-type="section"> <title>Background</title> <p>Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking.</p> </sec> <sec id="ane12371-sec-0002" sec-type="section"> <title>Aims</title> <p>To characterize a family with combined SCA2 and SCA10 mutations.</p> </sec> <sec id="ane12371-sec-0003" sec-type="section"> <title>Materials & Methods</title> <p>Analysis of the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations.</p> </sec> <sec id="ane12371-sec-0004" sec-type="section"> <title>Results</title> <p>The index case and his mother had both SCA2 and SCA10 mutations with a combined clinical phenotype of both disorders, including slow saccades (SCA2) and seizures (SCA10). The uncle of the index case had only an SCA10 mutation.</p> </sec> <sec id="ane12371-sec-0005" sec-type="section"> <title>Discussion</title> <p>Although the presence of two SCA mutations in the same individuals may be coincidental, the low probability of having both mutations suggests that these mutations might be particularly prevalent in Bolivian population.</p> </sec> <sec id="ane12371-sec-0006" sec-type="section"> <title>Conclusion</title> <p>This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.</p> </sec> </abstract>