Mutations in DJ-1 are rare in familial Parkinson disease

Nathan Pankratz, Michael W. Pauciulo, Veronika E. Elsaesser, Diane K. Marek, Cheryl A. Halter, Joanne Wojcieszek, Alice Rudolph, Clifford W. Shults, Tatiana Foroud, William C. Nichols

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.

Original languageEnglish (US)
Pages (from-to)209-213
Number of pages5
JournalNeuroscience Letters
Issue number3
StatePublished - Nov 20 2006

Bibliographical note

Funding Information:
This project was supported by R01 NS37167 and the National Cell Repository for Alzheimer's Disease (U24 AG021886). We thank Kathleen Miller and Michele Goodman for their assistance. We thank the subjects for their participation in this research study.


  • DJ-1
  • MLPA
  • Multiplex ligation-dependent probe amplification
  • Parkinson disease


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