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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

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Comment: fMRI biomarker for premanifest HD?

Joel S Perlmutter1

  • 1From the Departments of Neurology, Radiology, and Neurobiology and Programs in Physical Therapy and Occupational Therapy, Washington University School of Medicine, St. Louis, MO.

Neurology
|June 6, 2014
PubMed
Summary

No abstract available in PubMed .

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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