Category: Huntington's Disease
Objective: The aim of this pilot study was to investigate change of olfactory functions in Huntington’s disease.
Background: Huntington’s disease (HD) is a neurodegenerative disease characterized by motor, cognitive, and behavioral abnormalities (1). There are several studies reporting olfactory dysfunction in manifest HD (2, 3) and a recent neuropathological study demonstrated HD-specific protein aggregation in the anterior olfactory nucleus in HD patients (4). In this study, we wanted to assess olfactory functions as a possible early non-motor symptom of HD mutation carriers without disease-specific motor symptoms and HD patients.
Method: All participants had genetic confirmed HD and were prospectively recruited during their routine control in a specialized outpatient clinic of the Medical University of Innsbruck, Department of Neurology, Austria. Healthy controls (HC) were caregivers from patients. They were only included if they were younger than 70 years, scored more than 25/30 points on the Mini Mental State Examination, and had no other disease compromising olfactory function. Furthermore, all participants were tested on the Sniffin’ sticks 16-items identification test.
Results: We included 23 patients with manifest Huntington’s disease, 13 Huntington’s disease mutation carriers, and 19 HC. Mutation carriers showed significant impaired odor identification compared to HC (p=0.001), Huntington’s patients smelled worse than both mutation carriers (p=0.003) and HC (p<0.001).
Conclusion: The results of this pilot study suggest that olfactory dysfunction may be an early non-motor symptom of Huntington’s disease and could be a potential marker to assess disease progression.
References: 1. Conneally PM, Wallace MR, Gusella JF, Wexler NS. Huntington disease: estimation of heterozygote status using linked genetic markers. Genet Epidemiol. 1984;1(1):81-8. Epub 1984/01/01. doi: 10.1002/gepi.1370010110. PubMed PMID: 6242401. 2. Lazic SE, Goodman AO, Grote HE, Blakemore C, Morton AJ, Hannan AJ, et al. Olfactory abnormalities in Huntington’s disease: decreased plasticity in the primary olfactory cortex of R6/1 transgenic mice and reduced olfactory discrimination in patients. Brain Res. 2007;1151:219-26. Epub 2007/04/03. doi: 10.1016/j.brainres.2007.03.018. PubMed PMID: 17400200. 3. Moberg PJ, Pearlson GD, Speedie LJ, Lipsey JR, Strauss ME, Folstein SE. Olfactory recognition: differential impairments in early and late Huntington’s and Alzheimer’s diseases. J Clin Exp Neuropsychol. 1987;9(6):650-64. Epub 1987/12/01. doi: 10.1080/01688638708405208. PubMed PMID: 2961789. 4. Highet B, Dieriks BV, Murray HC, Faull RLM, Curtis MA. Huntingtin Aggregates in the Olfactory Bulb in Huntington’s Disease. Front Aging Neurosci. 2020;12:261. Epub 2020/10/06. doi: 10.3389/fnagi.2020.00261. PubMed PMID: 33013352; PubMed Central PMCID: PMCPMC7461834.
To cite this abstract in AMA style:
B. Heim, D. Valent, F. Carbone, S. Spielberger, F. Krismer, A. Djamshidian, K. Seppi. Extending the spectrum of non-motor symptoms in pre-motor Huntington’s disease – a pilot study [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/extending-the-spectrum-of-non-motor-symptoms-in-pre-motor-huntingtons-disease-a-pilot-study/. Accessed October 15, 2026.« Back to MDS Virtual Congress 2021
MDS Abstracts - https://www.mdsabstracts.org/abstract/extending-the-spectrum-of-non-motor-symptoms-in-pre-motor-huntingtons-disease-a-pilot-study/