Article
Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease.
The International journal of neuroscience - 1 Dec 2013
Thompson Amanda J, Scholz Sonja W, Singleton Andrew B, Hardwick Angela, McFarland Nikolaus R, Okun Michael S
Abstract excerpt
Parkin mutations are a common cause of early-onset Parkinson's disease. To study the clinical features and treatment responses of patients with homozygous or heterozygous Parkin mutations, we performed a retrospective chart review in six early-onset parkinsonism patients with pathogenic Parkin mutations. The clinical phenotypes observed in this cohort, all drawn from different families, were variable. All...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.