Effect of melatonin administration on cyclooxygenase-2 activity, serum levels of nitric oxide metabolites, lipoperoxides and glutathione peroxidase activity in patients with Parkinson's disease / Efecto de la administración de melatonina sobre la actividad de la ciclooxigenasa-2, la concentración sérica de metabolitos del óxido nítrico, los lipoperóxidos y la actividad de la glutatión peroxidasa en pacientes con enfermedad de Parkinson.

Objective: To determine the effect of melatonin (MEL) administration on ciclooxigenase 2 (COX-2) activity and serum concentration of nitric oxide metabolites, lipoperoxides and glutathione peroxidase (GPx) activity in patients with Parkinson's disease. Methods: Prospective double-blind randomized clinical pilot trial. 13 patients were included and two groups were formed: MEL at doses of 25 mg orally every 12 hours for 12 months and placebo with corn starch. Patients were assessed using the Unified Parkinson's Disease Scale. A blood sample was taken at baseline and every 3 months until 12 months. Results: COX-2 activity decreased as did nitrates/nitrites (3, 6 and 9 months) and lipoperoxides (9 and 12 months); GPx exhibited no significant differences.

[Frequency of the IVS4+66A-G polymorphism in the alpha-synuclein gene in patients with Parkinson's disease in north-western Mexico]. / Frecuencia del polimorfismo IVS4+66A-G en el gen alfa-sinucleína en pacientes con enfermedad de Parkinson del noroccidente de México.

INTRODUCTION: Parkinson disease (PD) is the second most common neurodegenerative disease of adult onset. Is a progressive movement disorder including tremor, bradykinesia, rigidity and postural instability, with an age onset between 43 and 66 years. Histopathologically, is characterized by a severe loss of dopaminergic neurons in the substantia nigra and inclusions consisting of insoluble protein aggregates called Lewy bodies, this are comprised in part of alpha-synuclein. The etiology of PD is still not fully understood, but genetic analyses, epidemiologic studies and experimental models of PD are providing important new insights into the pathogenesis of PD. AIM: To determine allelic and genotypic frequencies of polymorphism IVS4+66A-G in the alpha-synuclein gene and to demonstrate its association with PD in northwest Mexican population. SUBJECTS AND METHODS: Genomic desoxyribonucleic acid (DNA) from 51 PD patients and 121 persons without PD were achieved by polymerase chain reaction and analyzed the allelic and genotypic distribution in IVS4+66A-G polymorphism of alpha-synuclein gene. RESULTS: The genotypic frequency of IVS4+66AA was 43.1% in PD patients and 38.8% in control group; IVS4+66GG was 2% in PD patients and 4.1% in control group, whereas 54.9% in PD patients and 57.1% in control group were heterozygous. Statistical differences were not observed between groups (p<0.05). CONCLUSIONS: Association was not observed between the IVS4+66A-G polymorphism and PD.

Schwartz-Jampel syndrome: an atypical form?

The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10-year-old girl with expressionless face, blepharophimosis, mild thoracic asymmetry, and myotonic electromyographic pattern, but without osteoarticular, spinal, and statural involvement. This appears to be one of the mildest form of SJS described so far. Contiguous genes could be an explanation for this and other atypical cases of SJS.

Apolipoprotein E genotypes in Mexican patients with Parkinson's disease.

BACKGROUND: The association of the apolipoprotein (Apo E) -epsilon4 allele to neurodegenerative diseases such as Parkinson's disease (PD) has been analyzed in several studies. This association has been identified by amyloid deposits and neurofibrillary tangles in the brains of patients with neurodegenerative diseases. METHOD: In this study the possible relationship between Apo E alleles and PD patients was analyzed in 105 patients with PD and 107 healthy controls from a Mexican population. RESULTS: Allele analysis in PD vs. controls was: epsilon2 in 6% and 2.3%, respectively; epsilon3 in 73% and 88.3%; and epsilon4} in 21% and 9.4%. The epsilon3 allele showed a protective risk effect with an Odds ratio (OR) of 0.36 (95%CI 0.20-0.61) and p < 0.05; contrary results were observed for the epsilon4 allele, which showed an increased risk for PD, with an OR of 2.57(95% CI 1.42-4.79) and p < 0.05. Upon multivariate analysis showed PD risk was evident in patients who were carriers of the genotype epsilon3/epsilon4; age group (fifty or more years) and had exposure to pesticides and solvents (p < 0.05). CONCLUSIONS: The epsilon3/epsilon3}; epsilon3/epsilon4 genotypes of the Apo E, were positively associated with sporadic PD.