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Article

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

22 Jan 2014

Abstract excerpt

Huntington's disease (HD) is a devastating neurodegenerative disorder which is inherited in an autosomal dominant manner. HD is caused by a trinucleotide CAG repeat expansion that encodes a polyglutamine stretch in the huntingtin (HTT) protein. Mutant HTT expression leads to a myriad of cellular dysfunctions culminating in neuronal loss and consequent motor, cognitive and psychiatric disturbances in HD patients....

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PMID: 24452335
DOI: 10.1093/hmg/ddu022

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