Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

ABSTRACT:

Background

An initial diagnosis of Parkinson's disease (PD) is challenging, especially in patients who have early onset and atypical disease. A genetic etiology for parkinsonism, when established, ends that diagnostic odyssey and may inform prognosis and therapy. The objective of this study was to elucidate the genetic etiology of parkinsonism in patients with early onset disease (age at onset <45 years).

Methods

Whole-exome sequencing, copy number variability, and short tandem repeat analyses were performed. The analyses were focused on genes previously implicated in parkinsonism and dystonia in patients with early onset parkinsonism. Genotype-phenotype correlations were assessed using regression models.

Results

The patient cohort was characterized by early onset, sl

SUBMITTER: Gustavsson EK 

PROVIDER: S-EPMC6174458 | biostudies-literature | 2017 Jul-Aug

REPOSITORIES: biostudies-literature