Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients

N. Malek (Corresponding Author), D. M. A. Swallow, K. A. Grosset, M. A. Lawton, C. R. Smith, N. P. Bajaj, R. A. Barker, Y. Ben-Shlomo, C. Bresner, D. J. Burn, T. Foltynie, H. R. Morris, N. Williams, N. W. Wood, D. G. Grosset, PRoBaND Investigators

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


BACKGROUND: Parkin related Parkinson's disease (PD) is differentiated from idiopathic PD by absent or sparse Lewy bodies, and preserved olfaction. The significance of single Parkin mutations in the pathogenesis of PD is debated.

OBJECTIVES: To assess olfaction results according to Parkin mutation status. To compare the prevalence of Parkin single heterozygous mutations in patients diagnosed with PD to the rate in healthy controls in order to establish whether these single mutations could be a risk factor for developing PD.

METHODS: Parkin gene mutation testing was performed in young onset PD (diagnosed <50 years old) to identify three groups: Parkin homozygous or compound heterozygote mutation carriers, Parkin single heterozygote mutation carriers, and non-carriers of Parkin mutations. Olfaction was tested using the 40-item British version of the University of Pennsylvania smell identification test (UPSIT).

RESULTS: Of 344 young onset PD cases tested, 8 (2.3%) were Parkin compound heterozygotes and 13 (3.8%) were Parkin single heterozygotes. Olfaction results were available in 282 cases (eight compound heterozygotes, nine single heterozygotes, and 265 non-carriers). In Parkin compound heterozygotes, the median UPSIT score was 33, interquartile range (IQR) 28.5-36.5, which was significantly better than in single Parkin heterozygotes (median 19, IQR 18-28) and non-carriers (median score 22, IQR 16-28) (ANOVA P < 0.001). These differences persisted after adjusting for age, disease duration, gender, and smoking (P < 0.001). There was no significant difference in UPSIT scores between single heterozygotes and non-carriers (P = 0.90).

CONCLUSIONS: Patients with Parkin compound heterozygous mutations have relatively preserved olfaction compared to Parkin single heterozygotes and non-carriers. The prevalence of Parkin single heterozygosity is similar to the 3.7% rate reported in healthy controls.

Original languageEnglish
Pages (from-to)271-276
Number of pages6
JournalActa Neurologica Scandinavica
Issue number4
Early online date1 Dec 2015
Publication statusPublished - Oct 2016

Bibliographical note

The research was funded by Parkinson's UK and supported by the National Institute for Health Research (NIHR) DeNDRoN network, and the NIHR Newcastle Biomedical Research Unit based at Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health.


  • Parkinson's disease
  • genetics
  • olfaction
  • Parkin
  • University of Pennsylvania Smell Identification test


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