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

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Seppi, K. et al.

Seppi, Schocke, Mair, Esterhammer, Weirich-Schwaiger, Utermann, Egger, Brenneis, Granata, Boesch, Poewe, Wenning,

Diffusion-weighted imaging in Huntington's disease.

Huntington's disease ( HD) is an autosomal dominant progressive neurodegenerative disorder that results from an expanded trinucleotide (CAG) repeat on the huntingtin gene. Neurodegeneration in HD affects most prominently the basal ganglia. Therefore, diffusivity was obtained in the basal ganglia and thalamus of 29 patients with early HD and 27 healthy volunteers by means of the trace of the diffusion tensor (Trace(D)). Putaminal, caudate, pallidal, and thalamic Trace(D) values were increased in patients with HD compared with controls. Increased diffusivity in the putamen and caudate nucleus correlated with global functional impairment, CAG repeat length, as well as bicaudate ratio. Diffusion-weighted imaging appears to be a promising surrogate marker for disease severity in HD. Sensitivity to change remains to be established longitudinally.[1]

References

Diffusion-weighted imaging in Huntington's disease. Seppi, K., Schocke, M.F., Mair, K.J., Esterhammer, R., Weirich-Schwaiger, H., Utermann, B., Egger, K., Brenneis, C., Granata, R., Boesch, S., Poewe, W., Wenning, G.K. Mov. Disord. (2006) [Pubmed]

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