Impact of Extent of Investigation on Causes of Ischemic Stroke in The Young: A Retrospective Evaluation.

Background: Despite enormous advances in the diagnosis and treatment of ischemic stroke over the past decades, the extent of "standard" investigation to define its causes is heterogeneous. Young patients often undergo a myriad of diagnostic tests in developed countries, but the cost-effectiveness of this approach is uncertain. Objectives: Our main goal was to compare the frequencies of ischemic stroke of undetermined and determined etiologies in young patients with "complete" or "incomplete" investigation according to either a stepwise or an extensive protocol. Methods: Data from 143 young patients with ischemic stroke were reviewed. For each patient, available data were assessed by means of a stepwise and an extensive protocol of investigation. We compared the frequencies of ischemic stroke of undetermined and determined etiology according to "complete" or "incomplete" investigation according to each protocol. Results: Completeness of investigation led to a significant increase in determination of stroke etiology when a stepwise approach but not an extensive protocol was applied. Conclusions: These results suggest that ordering an extensive workup to all young patients does not enhance the capability of determining causes of ischemic stroke. Evidence-based guidelines to define pathways of investigation and consensus about the interpretation of tests are deeply needed.

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease.

UNLABELLED: Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. METHOD: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). RESULTS: No G2019S mutations were found in both patients with sporadic PD and controls. CONCLUSIONS: Our results may be explained by the relatively small sample size.

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease / Frequência da mutação G2019S do LRRK2 em pacientes com doença de Parkinson esporádica e início tardio

Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson’s disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size. .

Mutação no gene LRRK2, predominantemente G2019S, foi descrita em indivíduos com doença de Parkinson (DP) esporádica ou herança autossômica dominante. A penetrância da mutação varia com a idade e há evidências de ancestral comum. As manifestações clínicas são indistinguíveis da DP idiopática. Sua prevalência depende da população estudada e varia de 0,1% em asiáticos a 41% em árabes do norte africano. O objetivo desse estudo foi identificar a mutação G2019S em brasileiros com DP esporádica. Método: Foram testados 100 pacientes com DP e 100 controles pareados por idade e sexo. A análise genética foi realizada pela reação em cadeia por polimerização (PCR). Resultados: Não foi encontrada a mutação G2019S nem nos pacientes com DP nem nos controles. Conclusão: É possível que nossos resultados sejam devidos ao pequeno número de pacientes incluídos. .