Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up

Sharon Hassin-Baer, Nobutaka Hattori, Oren S. Cohen, Magdalena Massarwa, Simon D. Israeli-Korn, Rivka Inzelberg*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background: We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds. Results: 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. Conclusions: 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.

Original languageEnglish
Pages (from-to)719-722
Number of pages4
JournalMovement Disorders
Volume26
Issue number4
DOIs
StatePublished - Mar 2011

Keywords

  • Follow-up
  • Genetics
  • PARK2
  • Parkin
  • Parkinson's disease

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