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Clin Neurol Neurosurg. 2008 Jan;110(1):65-8. Epub 2007 Oct 24.

White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8.

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Department of Neurology, Mayo Clinic Rochester, 200 First Street SW, Rochester, MN 55905, USA.


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.

[Indexed for MEDLINE]

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