Is olfactory impairment in Parkinson disease related to phenotypic or genotypic characteristics?

Verbaan, Dagmar; Boesveldt, Sanne; Rooden, Stephanie M. van; Visser, Martine; Marinus, Johan; Macedo, Maria G.; Fang, Yue; Heutink, Peter; Berendse, Henk W.; Hilten, J.J. van

doi:10.1212/01.wnl.0000336651.48596.c7

Cited by 53 publications

(52 citation statements)

References 36 publications

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“…29,30 Our study of olfaction in a genotyped sample of EOPD confirms previous reports of better olfaction in carriers of 2 Parkin mutations with PD, 22,23 and demonstrates impaired olfaction in Parkin mutation heterozygotes with PD, similar to that of people with PD who were Parkin noncarriers and significantly worse than compound heterozygotes with PD. The role of Parkin mutation heterozygosity in the pathogenesis of PD is controversial.…”

supporting

confidence: 89%

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Olfaction in Parkin heterozygotes and compound heterozygotes

Alcalay¹,

Siderowf²,

Ottman³

et al. 2011

Neurology

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supporting

confidence: 89%

“…22,23 Four of these carriers of Parkin mutations were heterozygotes (Dr. N. Khan, personal communication). Olfactory performance in Parkin mutation heterozygotes vs compound heterozygotes has never been reported.…”

mentioning

confidence: 99%

Olfaction in Parkin heterozygotes and compound heterozygotes

Alcalay¹,

Siderowf²,

Ottman³

et al. 2011

Neurology

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“…The prevalence of olfactory dysfunction in PD have been reported as 45-96.7% [36]. However, only a few studies have investigated olfaction in parkin disease [37][38][39][40]. According to Kahn et al, olfactory function in patients with parkin mutations including single heterozygotes appeared to be normal and differed significantly from that in patients with EOPD without parkin mutations and from PD [37].…”

Section: Discussionmentioning

confidence: 99%

Phenotype analysis in patients with early onset Parkinson’s disease with and without parkin mutations

Kim

Lee

et al. 2011

J Neurol

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The data regarding whether parkin genotype attributes phenotypic variation are conflicting. Since the incidence of parkin mutations is very low in patients with an age at onset (AAO) of >40 years, previous studies have unfairly compared phenotypes of two early onset Parkinson's disease (EOPD) groups with different AAOs. Thus, we compared the clinical features between patients with and without parkin mutations in EOPD with an AAO of ≤40 years. Of the 124 patients with EOPD with an AAO of ≤40 years who were recruited and screened for parkin mutations, 84 completed assessments for comparison of the phenotype according to parkin genotype. Fourteen of the 84 subjects carried two parkin mutations; 6, a single mutation; and 64, no mutations. Patients with two mutations had significantly younger AAOs, longer duration of PD, and more common family history than patients without parkin mutations. Otherwise, motor and nonmotor symptoms did not differ between them. Subgroup analysis of EOPD with an AAO of ≤35 years revealed similar results. Phenotype of EOPD may depend on early AAOs rather than presence of parkin mutations.

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“…Additionally, the clinical phenotype seems quite broad and can include a motor neuron disease phenotype [41]. One possible hint that the disease caused by DJ-1 mutations is not a Lewy body disease is the fact that, like parkin mutation carriers, those with clearly recessive disease do not have olfactory involvement [42].…”

Section: Dj-1mentioning

confidence: 99%