Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes.
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.
Barsottini
Orlando G P
OG
Instituto Israelita de Ensino e Pesquisa, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil. orlandobarsottini@gmail.com
Felício
Andre C
AC
Aguiar
Patricia de Carvalho
Pde C
Godeiro-Junior
Clecio
C
Shih
Ming C
MC
Hoexter
Marcelo Q
MQ
Bressan
Rodrigo A
RA
Ferraz
Henrique B
HB
Andrade
Luiz Augusto F
LA