Variable PARK2 Mutations Cause Early-Onset Parkinson’s Disease in a Small Restricted Population

Shay Ben-Shachar, Zaid Afawi, Rafik Masalha, Samih Badarny, Tova Neiman, Dina Pavzner, Anat Bar-Shira, Avi Orr-Urtreger

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Early-onset Parkinson’s disease (EOPD) is less common than the typical adult-onset PD and may be associated with a genetic etiology. Mutations in several genes are known to cause autosomal recessive (AR) PD. This study aimed to detect the etiology of EOPD in consanguineous families or families living in a specific small geographic region in Israel. Six families with EOPD affecting more than a single individual were recruited. Homozygous mapping analysis using a single-nucleotide polymorphism-based array was performed in all families, followed by Sanger sequencing of related genes based on the mapping results. In addition, all families underwent PARK2 sequencing and testing for large deletions and duplications in PD-associated genes. Different truncating mutations were detected in the PARK2 gene among affected individuals of three families: c.996C>A (p.Cys332X) and c.101delA in either homozygous or compound heterozygous fashion. Exon 4 deletion was detected in a heterozygous manner in a late-onset PD and in homozygous state in early-onset disease in the same family. No disease-causing mutations were detected in any other tested genes. In total, mutations in the PARK2 gene were detected in four of the six tested families with a history of EOPD. These results further demonstrate the role of PARK2 in AR PD. We recommend genetic analysis for the PARK2 gene when AR PD is suspected.

Original languageEnglish
Pages (from-to)216-222
Number of pages7
JournalJournal of Molecular Neuroscience
Issue number2
StatePublished - 1 Oct 2017


  • Autosomal recessive
  • EOPD
  • Early-onset Parkinson’s disease
  • PARK2

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience


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