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Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

Alexander M Beer1, Johnathan Cooper-Knock, Adrian Higginbottom

  • 1Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield , UK.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|December 2, 2014
PubMed
Abstract

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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