Olfactory dysfunction in
            <i>LRRK2</i>
            G2019S mutation carriers

Saunders‐Pullman, Rachel; Stanley, Kaili; Wang, C.; Luciano, Marta San; Shanker, Vicki; Hunt, Amelia R.; Severt, Lawrence; Raymond, Deborah; Ozelius, Laurie J.; Lipton, Richard B.; Bressman, Susan

doi:10.1212/wnl.0b013e318227041c

Cited by 73 publications

(73 citation statements)

References 34 publications

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“…This finding is in agreement with the majority of reports on Caucasian participants [1,19]. Previous studies have shown that olfactory function presents better UPSIT (University of Pennsylvania Smell Identification Test) scores in LRRK2 G2019S PD patients than in iPD patients, indicating that this variant might preserve olfactory function in PD patients [8] and patients with this variant might have a different subtype of PD [20,21]. However, we did not obtain the same result in PD patients with the LRRK2 G2385R variant.…”

Section: Discussionsupporting

confidence: 92%

“…About 75%-90% of PD patients present with hyposmia [1][2][3], suggesting that it is an early marker of developing PD [4]. However, a few studies have reported that olfactory function is less impaired in genetic PD with the leucine-rich repeat kinase 2 (LRRK2) G2019S variant than idiopathic PD in Caucasians [5][6][7][8], while little information is available on olfactory function in PD patients with the Asiaspecific LRRK2 G2385R variant. Previous studies have shown that the LRRK2 G2385R variant is commonly associated with late-onset sporadic PD, which is clinically similar to idiopathic PD in Chinese patients [9,10].…”

Section: Introductionmentioning

confidence: 99%

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Olfactory Dysfunction in Parkinson’s Disease Patients with the LRRK2 G2385R Variant

Cao

et al. 2016

Neurosci. Bull.

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Olfactory dysfunction has been reported in Parkinson's disease (PD) patients carrying the LRRK2 G2019S variant in Caucasians but rarely in those with the LRRK2 G2385R variant. In this study, we performed genotyping for the LRRK2 G2385R variant in PD patients recruited from the Movement Disorder Clinic of Xuanwu Hospital in Beijing and in healthy controls randomly selected from the Beijing Longitudinal Study on Aging cohort. The ''five-odor olfactory detection array'', an olfactory threshold test, was used to assess olfactory function. One hundred and eighty-six participants were enrolled, comprising 43 PD patients without (iPD) and 25 with (LRRK2-PD) the LRRK2 G2385R variant, and 118 healthy controls. Our results showed that the threshold of olfactory identification was significantly worse in PD patients than in controls, but not significantly different between the iPD and LRRK2-PD groups. These findings suggested that although olfactory function in LRRK2-PD patients is impaired, it is similar to that in iPD patients.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Olfactory Dysfunction in Parkinson’s Disease Patients with the LRRK2 G2385R Variant

Cao

et al. 2016

Neurosci. Bull.

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“…Olfactory impairment is not present in healthy LRRK2 carriers, while only very mild hyposmia is found in LRRK2 PD patients. [84][85][86][87] Smell testing may be useful as a supportive marker for differentiating LRRK2 PD from idiopathic PD in the absence of genetic testing.…”

Section: Smell and Genetic Pdmentioning

confidence: 99%

Spotlight on olfactory dysfunction in Parkinson's disease

Rodríguez-Violante¹,

Ospina-García²,

Perez‐Lohman³

et al. 2017

JPRLS

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“…In our study, the genes were detected by the target sequencing and MPLA, which could identify both sequence and dosage mutations in patients with PD. Our control group of Parkin negative patients referred to those with no mutations or variants ranked as pathogenic, likely pathogenic or VUS detected by the panel, thus eliminated the interference of other genes on olfaction (Marras et al., 2011; Saunders‐Pullman et al., 2011). This was the most significant difference from previous studies (Alcalay et al., 2011; Malek et al., 2016).…”

Section: Discussionmentioning

confidence: 99%

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

Wang

Liu

et al. 2017

Brain and Behavior

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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.

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Olfactory dysfunction in LRRK2 G2019S mutation carriers

Abstract: Background: Olfactory dysfunction is an established nonmotor feature of idiopathic Parkinson

Cited by 73 publications

References 34 publications

Olfactory Dysfunction in Parkinson’s Disease Patients with the LRRK2 G2385R Variant

Olfactory Dysfunction in Parkinson’s Disease Patients with the LRRK2 G2385R Variant

Spotlight on olfactory dysfunction in Parkinson's disease

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

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Olfactory dysfunction in LRRK2 G2019S mutation carriers

Abstract: Background: Olfactory dysfunction is an established nonmotor feature of idiopathic Parkinson

Cited by 73 publications

References 34 publications

Olfactory Dysfunction in Parkinson’s Disease Patients with the LRRK2 G2385R Variant

Olfactory Dysfunction in Parkinson’s Disease Patients with the LRRK2 G2385R Variant

Spotlight on olfactory dysfunction in Parkinson&#39;s disease

Olfaction in Parkin carriers in Chinese patients with Parkinson disease

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Spotlight on olfactory dysfunction in Parkinson's disease