title: Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes.
abstract: OBJECTIVE
  To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes.
  
  
  METHODS
  A total of 119 patients meeting clinical criteria for PD were evaluated.
  
  
  RESULTS
  Of all patients studied, 13 had mutations in either PARK2 (n=9) or PARK8 genes (n=4). No statistically significant differences in clinical characteristics in both groups were seen. SPECT with [99mTc] TRODAT-1 showed significant differences between patient and control and the most remarkable difference was between PARK2 and control.
  
  
  CONCLUSIONS
  The study found a frequency of mutation of 10.1% and it was most commonly seen in women. These patients had long disease course and high rates of dyskinesia after L-DOPA use. PARK8 patients did not have a relevant family history of PD.
authors.affiliation: Instituto Israelita de Ensino e Pesquisa, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil. orlandobarsottini@gmail.com
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
authors.forename: Andre C
authors.initials: AC
authors.lastname: Felício
authors.forename: Patricia de Carvalho
authors.initials: Pde C
authors.lastname: Aguiar
authors.forename: Clecio
authors.initials: C
authors.lastname: Godeiro-Junior
authors.forename: Ming C
authors.initials: MC
authors.lastname: Shih
authors.forename: Marcelo Q
authors.initials: MQ
authors.lastname: Hoexter
authors.forename: Rodrigo A
authors.initials: RA
authors.lastname: Bressan
authors.forename: Henrique B
authors.initials: HB
authors.lastname: Ferraz
authors.forename: Luiz Augusto F
authors.initials: LA
authors.lastname: Andrade