Abstract
BackgroundOlfactory identification was reported to be better among PD (Parkinson disease) patients with Parkin mutations, but previous studies didn't eliminate the interference of other PD related genes on olfaction, and whether olfaction of Parkin mutations patients was better in Chinese population was still unknown.ObjectiveTo assess olfaction function among PD patients with Parkin mutations in Chinese population.Materials and MethodsA total of 226 PD patients with a positive family history or an early‐onset age (<50 years) were enrolled for genetic testing of PD related genes by target sequencing and multiple ligation‐dependent probe amplification. The clinical data including olfactory function test were investigated. Linear regression was performed to adjust for the covariates between all groups.ResultsThere were 68 patients found having a negative result in PD genetic testing and 43 patients carrying homozygous or compound heterozygous Parkin mutations. Among them, 49 PD panel negative patients and 33 PD‐Parkin patients had results of olfactory assessment. PD ‐Parkin patients performed significantly better on the Sniffin’ Sticks tests than panel negative patients (8.0 ± 1.7 vs. 5.7 ± 1.9, p < .001), but still worse compared to healthy controls (9.4 ± 1.5, p = .003). These differences persisted after adjusting for confounders.ConclusionsAmong Chinese population, PD ‐Parkin patients had relatively preserved olfaction compared to PD panel negative patients after eliminating the interference of other PD related genes, but were still worse than healthy controls.
Highlights
| METHODS(Daniel & Lees, 1993). The written informed consent was obtained from each subject after the aims and protocol was fully explained
Olfactory identification was reported to be better among PD (Parkinson disease) patients with Parkin mutations, but previous studies didn’t eliminate the interference of other PD related genes on olfaction, and whether olfaction of Parkin mutations patients was better in Chinese population was still unknown
In order to assess olfaction function in Parkin related PD patients among Chinese population, we evaluated olfactory function in a cohort of Chinese PD patients with Parkin mutations by a gene panel containing all known PD related genes
Summary
(Daniel & Lees, 1993). The written informed consent was obtained from each subject after the aims and protocol was fully explained. Age and olfaction performance were compared among the PD-Parkin patients, PD panel negative patients and healthy controls using one way ANOVA, and the post hoc tests were conducted by Bonferroni multiple comparison tests. According to the genetic testing, 68 patients had no mutations or variants ranked as pathogenic, likely pathogenic or VUS detected by the panel. In a linear regression model including all PD patients, the PD-Parkin patients were associated with higher olfaction scores when compared with the PD panel negative patients (p = .005), after adjustment for age, education, MMSE and LEDD. The olfaction test scores were still significantly lower in the PD-Parkin patients compared with healthy controls (p = .003), and the differences persisted after adjustment for age (p = .001) (Figure 2 and Table 1).
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