ORIGINAL CONTRIBUTION Case-Control Study of the Parkin Gene in Early-Onset Parkinson Disease
نویسندگان
چکیده
Background: Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding regions and exon deletions and duplications in controls.
منابع مشابه
How to predict the risk of Parkinson disease in relatives of parkin mutation carriers: a complex puzzle of age, penetrance, and number of mutated alleles.
M UTATIONS IN THE RECESSIVELY INHERited Parkin gene (OMIM 600116) are the most common known cause of early-onset Parkinson disease (PD) and account for as many as 77% of the patients with a juvenile or very young age of onset ( 30 years) and about 10% of a population-based sample with early-onset PD beginning at younger than 50 years. Although homozygous or compound-heterozygous Parkin mutation...
متن کاملParkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
OBJECTIVE The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. METHODS A total of 70 early-onset Parkinson's disease patients (age at onset ≤40 years) and 75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. RESULTS Parkin mutations were identified in f...
متن کاملParkin disease: a phenotypic study of a large case series.
Mutations in the parkin gene, PARK2, are a common cause of parkinsonism in familial as well as isolated cases with an age of onset <40 years and should be considered in the diagnostic work up of young-onset parkinsonism. We report a detailed clinical evaluation of a personal series of 24 patients with mutations in the parkin gene. The clinical presentation of most cases was broadly comparable t...
متن کاملMutational screening of the parkin gene among South Indians with early onset Parkinson's disease.
Parkin mutations are commonly encountered in multiethnic populations with familial early onset Parkinson's disease (PD) and less frequently in sporadic PD. A total of 102 patients (recruited from a hospital) with early onset PD from an ethnically homogeneous Indian population (age of onset < or =50 years) including both familial (n = 20) and sporadic (n = 82) cases were screened for parkin muta...
متن کاملAssociation study of Parkin gene polymorphisms with idiopathic Parkinson disease.
BACKGROUND Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 years (families with early-onset disease). Further study demonstrated the presence of Parkin mutations in this data set. However, previous cas...
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