Relevant conflicts of interest/financial disclosure: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.
Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up†
Article first published online: 21 JAN 2011
Copyright © 2010 Movement Disorder Society
Volume 26, Issue 4, pages 719–722, March 2011
How to Cite
Hassin-Baer, S., Hattori, N., Cohen, O. S., Massarwa, M., Israeli-Korn, S. D. and Inzelberg, R. (2011), Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up. Mov. Disord., 26: 719–722. doi: 10.1002/mds.23456
- Issue published online: 19 APR 2011
- Article first published online: 21 JAN 2011
- Manuscript Accepted: 3 SEP 2010
- Manuscript Revised: 31 AUG 2010
- Manuscript Received: 11 JUL 2010
- Parkinson's disease;
We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.
All patients had a single base-pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition.
The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society