Different clinical features in siblings with identical mutations of the Parkin gene (PARK2)

J Neurol Sci. 2016 Sep 15:368:147-9. doi: 10.1016/j.jns.2016.07.004. Epub 2016 Jul 5.

Authors

Kota Sato¹, Toru Yamashita¹, Noriko Hatanaka¹, Mami Takemoto¹, Nozomi Hishikawa¹, Yasuyuki Ohta¹, Koji Abe²

Affiliations

¹ Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Kitaku, Okayama 700-8558, Japan.
² Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Kitaku, Okayama 700-8558, Japan. Electronic address: [email protected].

PMID: 27538620
DOI: 10.1016/j.jns.2016.07.004

No abstract available

Keywords: Homozygotic exon 3 deletion; PARK2; Parkinson's disease.

Publication types

Case Reports
Letter

MeSH terms

Adult
Diagnosis, Differential
Female
Humans
Male
Middle Aged
Mutation*
Parkinson Disease / diagnosis
Parkinson Disease / genetics*
Parkinson Disease / physiopathology*
Parkinson Disease / psychology
Phenotype
Siblings*
Ubiquitin-Protein Ligases / genetics*

Substances

Ubiquitin-Protein Ligases
parkin protein