Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes / Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8
Arq. neuropsiquiatr
;
67(1): 7-11, Mar. 2009. tab
Article
in English
| LILACS
| ID: lil-509099
ABSTRACT
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 percent 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.RESUMO
OBJETIVO:
Descrever as características clínicas e de neuroimagem (SPECT) de pacientes brasileiros com doença de Parkinson e mutações PARK2 e PARK8.MÉTODO:
Foram avaliados 119 pacientes com critérios clínicos para a doença de Parkinson.RESULTADO:
Entre os pacientes avaliados foram encontrados 13 pacientes com mutação nos genes PARK2 (n=9) ou PARK8 (n=4). Não houve diferença significativa na avaliação das características clínicas entre os dois grupos. Os resultados de SPECT mostraram diferenças significativas quanto ao potencial de ligação do [99mTc] TRODAT-1 SPECT entre pacientes vs. controle, sendo a diferença mais pronunciada entre PARK2 e controle.CONCLUSÃO:
A freqüência de mutação encontrada foi 10,1 por cento, sendo mais comum em mulheres. Estes pacientes apresentavam longo tempo de doença e alta prevalência de discinesias associadas ao uso da levodopa. Nossos pacientes com PARK8 não apresentaram uma história familiar relevante de doença de Parkinson.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Parkinson Disease
/
Protein Serine-Threonine Kinases
/
Ubiquitin-Protein Ligases
/
Mutation
Type of study:
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
2009
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital Israelita Albert Einstein/BR
/
Universidade Federal de São Paulo/BR
Similar
MEDLINE
...
LILACS
LIS