DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

Ann Neurol. 2005 Nov;58(5):803-7. doi: 10.1002/ana.20666.


DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early-onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ-1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene.

Publication types

  • Comparative Study

MeSH terms

  • Amyotrophic Lateral Sclerosis / complications
  • Amyotrophic Lateral Sclerosis / genetics*
  • Blotting, Northern / methods
  • DNA Mutational Analysis / methods
  • Dementia / complications
  • Dementia / genetics*
  • Exons
  • Family Health
  • Female
  • Glutamic Acid / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mucoproteins / genetics
  • Mutation*
  • Oncogene Proteins / genetics*
  • Parkinsonian Disorders / complications
  • Parkinsonian Disorders / genetics*
  • Protein Deglycase DJ-1
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods


  • Intracellular Signaling Peptides and Proteins
  • Mucoproteins
  • Oncogene Proteins
  • RNA, Messenger
  • lysin, gastropoda
  • Glutamic Acid
  • PARK7 protein, human
  • Protein Deglycase DJ-1