title: Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.
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.
authors.affiliation: The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Sharon
authors.initials: S
authors.lastname: Hassin-Baer
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.forename: Oren S
authors.initials: OS
authors.lastname: Cohen
authors.forename: Magdalena
authors.initials: M
authors.lastname: Massarwa
authors.forename: Simon D
authors.initials: SD
authors.lastname: Israeli-Korn
authors.forename: Rivka
authors.initials: R
authors.lastname: Inzelberg
mesh_terms: D000225:Adenine; D000328:Adult; D017668:Age of Onset; D000368:Aged; D004185:Disability Evaluation; D018450:Disease Progression; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D012720:Severity of Illness Index; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D000225:Adenine