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Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are alterations in the levels of certain neurotransmitters and folate in the pathogenesis of this disease. Here we re-evaluated this hypothesis. Patients and methods: We evaluated CSF folate, biogenic amines and pterines in 25 RD patients. Treatment with oral folinic acid was started in those cases with low folate. Patients were clinically evaluated and videotaped up to 6 months after therapy. Results: CSF folate was below the reference values in 32% of the patients. Six months after treatment no clinical improvement was observed. Three of the four patients with the R294X mutation had increased levels of a dopamine metabolite associated to a particular phenotype. Three patients had low levels of a serotonin metabolite. Two of them were treated with fluoxetine and one showed clinical improvement. No association was observed between CSF folate and these metabolites, after adjusting for the patients age and neopterin levels. Conclusion: Our results support that folinic acid supplementation has no significant effects on the course of the disease. We report discrete and novel neurotransmitter abnormalities that may contribute to the pathogenesis of RD highlighting the need for further studies on CSF neurotransmitters in clinically and genetically well characterized patients.

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We report the first confirmed detection of the galaxy cluster VVV-J144321-611754 at very low latitudes (l = 315.836 • , b = -1.650 • ) located in the tile d015 of the VISTA Variables in the Vía Láctea (VVV) survey. We defined the region of 30× 30 arcmin 2 centered in the brightest galaxy finding 25 galaxies. For these objects, extinction-corrected median colors of (H -K s ) = 0.34 ± 0.05 mag, (J -H) = 0.57 ± 0.08 mag and (J -K s ) = 0.87 ± 0.06 mag, and R 1/2 = 1.59 ± 0.16 arcsec; C = 3.01 ± 0.08; and Sersic index, n = 4.63 ± 0.39 were estimated. They were visually confirmed showing characteristics of early-type galaxies in the near-IR images. An automatic clustering analysis performed in the whole tile found that the concentration of galaxies VVV-J144321-611754 is a real, compact concentration of early-type galaxies. Assuming a typical galaxy cluster with low X-ray luminosity, the photometric redshift of the brightest galaxy is z = 0.196 ± 0.025. Follow-up near-IR spectroscopy with FLAMINGOS-2 at the Gemini-South telescope revealed that the two brighter cluster galaxies have typical spectra of early-type galaxies and the estimated redshift for the brightest galaxy VVV-J144321.06-611753.9 is z = 0.234±0.022 and for VVV-J144319.02-611746.1 is z = 0.232±0.019. Finally, these galaxies clearly follow the cluster Red Sequence in the rest-frame near-IR color-magnitude diagram with the slope similar to galaxy cluster at redshift of 0.2. These results are consistent with the presence of a bona fide galaxy cluster beyond the Milky Way disk.