Adult-onset spinocerebellar ataxia due to MTATP6 mutations: are they more common than previously thought?
- Correspondence to Dr Teeratorn Pulkes, Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Rama VI Road, Bangkok 10400, Thailand;
Contributors Maurice M Broughton helped with the English editing.
- Accepted 15 May 2012
- Published Online First 8 July 2012
The diagnosis of adult-onset spinocerebellar ataxia syndromes is often problematic since aetiologies of chronic progressive ataxic syndromes are wide-ranging, including hereditary, degenerative and various other acquired disorders. Most of these disorders have generally no characteristic clinical appearances, or neuroimaging, to help in making a specific diagnosis. Although these patients are carefully investigated by using several advanced laboratory tests, a large proportion of them remain unclassified. However, genetic factors appear to be an important cause. It is not only familial forms, in which specific mutations of spinocerebellar ataxia (SCA) subtypes often account for 40%–70%, but also common SCA mutations are identified in up to 22% of sporadic cases.1
In this regard, Pfeffer, et al demonstrated that mutations of the mitochondrial ATP synthase six gene (MTATP6) may be relatively common in previous unclassified adult-onset spinocerebellar ataxic syndromes.2 All patients were familial forms, but although …