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  Automatic detection of preclinical neurodegeneration: Presymptomatic Huntington disease

Klöppel, S., Chu, C., Tan, G., Draganski, B., Johnson, H., Paulsen, J., et al. (2009). Automatic detection of preclinical neurodegeneration: Presymptomatic Huntington disease. Neurology, 72(5), 426-431. doi:10.1212/01.wnl.0000341768.28646.b6.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0013-C5B7-3 Version Permalink: http://hdl.handle.net/21.11116/0000-0002-C9ED-1
Genre: Journal Article

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http://n.neurology.org/content/72/5/426 (Publisher version)
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 Creators:
Klöppel, S, Author
Chu, C, Author
Tan, GC, Author
Draganski, B, Author
Johnson, H, Author
Paulsen, JS, Author
Kienzle, W1, 2, Author              
Tabrizi , SJ, Author
Ashburner, J, Author
Frackowiak, RSJ, Author
Affiliations:
1Department Empirical Inference, Max Planck Institute for Biological Cybernetics, Max Planck Society, ou_1497795              
2Max Planck Institute for Biological Cybernetics, Max Planck Society, Spemannstrasse 38, 72076 Tübingen, DE, ou_1497794              

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 Abstract: Background: Treatment of neurodegenerative diseases is likely to be most beneficial in the very early, possibly preclinical stages of degeneration. We explored the usefulness of fully automatic structural MRI classification methods for detecting subtle degenerative change. The availability of a definitive genetic test for Huntington disease (HD) provides an excellent metric for judging the performance of such methods in gene mutation carriers who are free of symptoms. Methods: Using the gray matter segment of MRI scans, this study explored the usefulness of a multivariate support vector machine to automatically identify presymptomatic HD gene mutation carriers (PSCs) in the absence of any a priori information. A multicenter data set of 96 PSCs and 95 age- and sex-matched controls was studied. The PSC group was subclassified into three groups based on time from predicted clinical onset, an estimate that is a function of DNA mutation size and age. Results: Subjects with at least a 33 chance of developing unequivocal signs of HD in 5 years were correctly assigned to the PSC group 69 of the time. Accuracy improved to 83 when regions affected by the disease were selected a priori for analysis. Performance was at chance when the probability of developing symptoms in 5 years was less than 10. Conclusions: Presymptomatic Huntington disease gene mutation carriers close to estimated diagnostic onset were successfully separated from controls on the basis of single anatomic scans, without additional a priori information. Prior information is required to allow separation when degenerative changes are either subtle or variable.

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 Dates: 2009-02
 Publication Status: Published in print
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 Rev. Method: -
 Identifiers: BibTex Citekey: 5891
DOI: 10.1212/01.wnl.0000341768.28646.b6
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Title: Neurology
Source Genre: Journal
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Pages: - Volume / Issue: 72 (5) Sequence Number: - Start / End Page: 426 - 431 Identifier: -