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Updated: Jul 11, 2026
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8
1Department of Neurology, Mayo Clinic Rochester, 200 First Street SW, Rochester, MN 55905, USA. kumar.neeraj@mayo.edu
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.
Insights
Spinocerebellar ataxia type 8 (SCA8) can cause progressive cerebellar syndrome and white matter changes on MRI. These findings, also seen in myotonic dystrophy 1, suggest potential links in neurological disorders.
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Spinocerebellar ataxia type 8 (SCA8) is a progressive neurodegenerative disorder.
- Cerebellar atrophy is a hallmark of SCA8.
- White matter hyperintensities are observed in various neurological conditions.
Observation:
- Two brothers with SCA8 presented with progressive cerebellar syndrome.
- Both patients exhibited severe cerebellar atrophy on cranial MRI.
- Prominent white matter hyperintensities were noted on their cranial MRIs, a novel observation in SCA8.
Findings:
- This study is the first to report white matter hyperintensities in patients with spinocerebellar ataxia type 8.
- The presence of white matter changes in SCA8 is notable, given their known association with myotonic dystrophy 1 (DM1), a disorder with a similar molecular basis.
- Cognitive impairment is increasingly recognized in both SCA8 and DM1.
Implications:
- The findings suggest a potential link between SCA8 and white matter abnormalities, broadening the understanding of SCA8's clinical and radiological spectrum.
- The association of white matter hyperintensities in both SCA8 and DM1 may offer insights into shared pathomechanisms.
- Further research is warranted to explore the significance of these radiological findings and their correlation with cognitive decline in SCA8.
