OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: 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. CONCLUSION: 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.
OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: 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. CONCLUSION: 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. PARK8patients did not have a relevant family history of PD.
Authors: Mario R Cornejo-Olivas; Luis Torres; Ignacio F Mata; Pilar Mazzetti; Diana Rivas; Carlos Cosentino; Miguel Inca-Martinez; Juan M Cuba; Cyrus P Zabetian; James B Leverenz Journal: Parkinsonism Relat Disord Date: 2015-01-15 Impact factor: 4.891
Authors: Alisdair McNeill; Ruey-Meei Wu; Kai-Yuan Tzen; Patricia C Aguiar; Jose M Arbelo; Paolo Barone; Kailash Bhatia; Orlando Barsottini; Vincenzo Bonifati; Sevasti Bostantjopoulou; Rodrigo Bressan; Giovanni Cossu; Pietro Cortelli; Andre Felicio; Henrique B Ferraz; Joanna Herrera; Henry Houlden; Marcelo Hoexter; Concepcion Isla; Andrew Lees; Oswaldo Lorenzo-Betancor; Niccolo E Mencacci; Pau Pastor; Sabina Pappata; Maria Teresa Pellecchia; Laura Silveria-Moriyama; Andrea Varrone; Tom Foltynie; Anthony H V Schapira Journal: PLoS One Date: 2013-07-23 Impact factor: 3.240