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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.

Two sisters presented with olivopontocerebellar atrophy, neuronal loss in the substantia nigra, intranuclear ubiquitin-, ataxin-2-positive inclusions in neurons, and severe demyelination and axon loss of the cerebral white matter with no accompanying inflammatory pathology. The genetic study demonstrated a 22/36 CAG triplet expansion in the SCA2 gene in one of the sisters; SCA1, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPL were ruled out in this patient. The present report shows that severe cerebral white matter pathology may occur in the context of SCA2.[1]

References

  1. Spinocerebellar ataxia type 2 (SCA2) with white matter involvement. Armstrong, J., Bonaventura, I., Rojo, A., González, G., Corral, J., Nadal, N., Volpini, V., Ferrer, I. Neurosci. Lett. (2005) [Pubmed]
 
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