Investigation of PSEN1, 2 hot spots in Iranian early-onset Alzheimer's disease patients

Alzheimer's disease is a progressive, neurodegenerative disease with both genetic and non genetic causes. Familial Alzheimer's disease can be caused by mutations in the amyloid precursor protein, presenilin 1 and presenilin 2. Early-onset familial Alzheimer's disease [autosomal dominantly inherited] accounts for a small fraction [2-3%] of Alzheimer's disease cases. The aim of this study was investigation of exons 5, 7 in PSEN1 and exons 5, 6 in PSEN2 genes in Iranian patients with early onset Alzheimer disease. These exons were hot spots in different country. In this experimental study 24 patients with early onset Alzheimer disease and 48 healthy subjects as control group were included in this study. After DNAs extraction from whole blood, PCR-sequencing was used to amplify and analyze 4 exons. Two known mutations [Glu 120 Lys in exon 3 of two patients and Arg 62 His in exon 5 of one patient] were found. According to the above findings, these exons were not hot spot in Iran

efficacy of gabapentin in patients with central post-stroke pain

Thalamic pain syndrome, a type of central post-stroke pain [CPSP], may develops after a hemorrhagic or ischemic stroke and results in impairment of the thalamus. There is limited experience about gabapentin in treatment of central pains like CPSP. In a prospective observational study, the intensity of pain was recorded using the Numeric Rating Scale [NRS] at the entrance to the study. Patients eligible for treating with gabapentin, received gabapentin 300 mg twice-daily. The pain intensity was measured at entrance to the study and after one month using NRS. Decrease of 3 points from the initial NRS considered being clinically significant. From a total of 180 primarily screened patients, 84 [44 men and 40 women] were recruited. There was a significant difference between pre-treatment and post-treatment NRS [5.9 +/- 2.51 vs. 4.7 +/- 3.01; 95% CI: 0.442-1.962, p = 0.002]. Fisher›s exact test showed no statistically significant effect of clinical and demographic characteristics of patients on their therapeutic response to gabapentin. Given the safety, efficacy, well tolerability and lack of interaction with other drugs we suggest gabapentin to be more considered as a first line therapy or as add-on therapy for reducing the pain severity in patients with thalamic syndrome