title: White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8.
abstract: 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.
authors.affiliation: Department of Neurology, Mayo Clinic Rochester, 200 First Street SW, Rochester, MN 55905, USA. kumar.neeraj@mayo.edu
authors.forename: Neeraj
authors.initials: N
authors.lastname: Kumar
authors.forename: Gary M
authors.initials: GM
authors.lastname: Miller
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology* / Q000523:psychology
chemical_list: C415906:ATXN8OS gene product, human; D009419:Nerve Tissue Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated