White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8

We report two brothers with a progressive cerebellar syndrome due to spinocerebellar ataxia type 8 (SCA8). In addition to severe cerebellar atrophy, both had prominent white matter hyperintensities on cranial MRI. This is the first report of white matter hyperintensities on cranial MRI in patients with SCA8. A disorder due to a similar molecular basis, myotonic dystrophy 1 (DM1), is known to have white matter hyperintensities on cranial MRI. Cognitive impairment is well described in DM1 and is being recognized in SCA8. The significance of these associations is discussed. (c) 2007 Elsevier B.V. All rights reserved.