title: Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
abstract: BACKGROUND
  Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene.
  
  
  OBJECTIVE
  To search for the presence of parkin gene mutations in Spanish patients with Parkinson's disease (PD) and characterise the phenotype associated with these mutations.
  
  
  METHODS
  Thirty seven PD patients with either early onset or autosomal recessive pattern of inheritance were selected for genetic study.
  
  
  RESULTS
  Mutations were identified in seven index patients (19%). Homozygous mutations were detected in six patients and a heterozygous mutation in one. The age at onset was lower in patients with mutations than in patients without mutations. Dystonia at onset was present in two patients with parkin gene mutations. The disease began in two patients with postural tremor in the upper limbs mimicking essential tremor. Four patients exhibited a long term response to dopamine agonists. The c.255delA mutation was identified in four unrelated families. This is a frameshift mutation leading to protein truncation.
  
  
  CONCLUSIONS
  Parkin gene mutations are present in Spanish patients with early onset and/or an autosomal recessive parkinsonism. The c.255delA is the most frequent mutation found, suggesting a relative high prevalence in the Spanish population.
authors.affiliation: Movemente Disorder Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Villarroel 170, 08036 Barcelona, Spain. jemunoz@clinic.ub.es
authors.forename: E
authors.initials: E
authors.lastname: Muñoz
authors.forename: E
authors.initials: E
authors.lastname: Tolosa
authors.forename: P
authors.initials: P
authors.lastname: Pastor
authors.forename: M J
authors.initials: MJ
authors.lastname: Martí
authors.forename: F
authors.initials: F
authors.lastname: Valldeoriola
authors.forename: J
authors.initials: J
authors.lastname: Campdelacreu
authors.forename: R
authors.initials: R
authors.lastname: Oliva
mesh_terms: D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D015994:Incidence; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013030:Spain / Q000453:epidemiology; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases