Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes

• Published in: Arquivos de neuro-psiquiatria 2009-03, Vol.67 (1), p.7-11
• Main Authors: Barsottini, Orlando G P, Felício, Andre C, Aguiar, Patricia de Carvalho, Godeiro-Junior, Clecio, Shih, Ming C, Hoexter, Marcelo Q, Bressan, Rodrigo A, Ferraz, Henrique B, Andrade, Luiz Augusto F
• Format: Article
• Language: English
• Subjects: Adult; Age of Onset; Brazil - epidemiology; Environment; Female; Gene Frequency; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Male; Middle Aged; Mutation; NEUROSCIENCES; Parkinson Disease - diagnostic imaging; Parkinson Disease - epidemiology; Parkinson Disease - genetics; Protein-Serine-Threonine Kinases - genetics; PSYCHIATRY; Sex Factors; Tomography, Emission-Computed, Single-Photon; Ubiquitin-Protein Ligases - genetics
• ISSN: 0004-282X; 1678-4227; 1678-4227; 0004-282X
• DOI: 10.1590/S0004-282X2009000100003

To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. A total of 119 patients meeting clinical criteria for PD were evaluated. 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. 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.