Odor identification in Huntington's disease patients and asymptomatic gene carriers
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Olfactory Assays for Mouse Models of Neurodegenerative Disease
Published on: August 25, 2014
F W Bylsma1, P J Moberg, R L Doty
1Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287-7218, USA. fbylsma@welchlink.welch.jhu.edu
The Journal of Neuropsychiatry and Clinical Neurosciences
|February 3, 1998
Abstract:
Odor identification was assessed in 20 Huntington's disease (HD) patients, 20 normal adults with the genetic mutation that causes HD, and 20 mutation-negative adults. The University of Pennsylvania Smell Identification Test (UPSIT) revealed substantial odor identification deficits only in HD patients.
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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 reduced penetrance,...
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