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Phenotype analysis in patients with early onset Parkinson’s disease with and without parkin mutations
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Phenotype analysis in patients with early onset Parkinson’s disease with and without parkin mutations
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Journal Article
Phenotype analysis in patients with early onset Parkinson’s disease with and without parkin mutations
2011
Overview
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.
Publisher
Springer-Verlag,Springer,Springer Nature B.V
Subject
/ Adult
/ Age
/ Biological and medical sciences
/ Child
/ Female
/ Humans
/ Infant
/ Male
/ Medicine
/ Mental Disorders - epidemiology
/ Motor Skills Disorders - epidemiology
/ Motor Skills Disorders - etiology
/ Mutation
/ Parkinson Disease - complications
/ Parkinson Disease - genetics
/ Sensation Disorders - epidemiology
/ Sensation Disorders - etiology
/ Sleep Disorders, Intrinsic - epidemiology
/ Sleep Disorders, Intrinsic - etiology
