N -Methyl-d-aspartate (NMDA) receptor-mediated excitotoxicity has been proposed to play a role in the pathogenesis of Huntington disease (HD), an autosomal dominantly inherited disorder associated with defined expansions in a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of CAG repeat units is highly predictive for the age at onset (AO) in HD. However, AO is only modestly correlated with repeat length when the HD expansion range is in the high 30s or low 40s. Therefore, we investigated whether the genes for the different subunits composing the multimeric complexes of NMDA receptors (GRIN glutamate receptor, ionotropic, N-methyl-d-aspartate) represent candidates for modulating the AO of HD. In the studied cohort of 167 HD patients, the repeat range from 41 to 45 CAG units accounted for 30.8% of the variance in AO; 12.3% additional variance could be attributed to GRIN2B genotype variation and 4.5% to GRIN2A genotype variation. We conclude that these two genes, coding for NR2B and NR2A subtypes mainly expressed in the striatum, may influence the variability in AO of HD. Neuroprotective strategies for HD patients and persons at risk should be reconsidered in the light of these findings.
Pregnancy-induced rhinitis (PIR) is often misclassified and under-diagnosed. There is currently no cure or opti- mum symptomatic treatment.
To summarize current knowledge of PIR and assess evidence supporting treatment options.
Structured literature se...
We developed the Subjective Effects of Alcohol Scale (SEAS), a novel, psychometrically sound SR measure for use in alcohol administration studies. Pilot data ensured that the SEAS comprised a comprehensive range of effects that varied in terms of valence and arousal and were perceived as plausible e...
We study the superfluid to Mott insulator transition of a mixture of heavy
Bosons and light fermions loaded in an optical lattice. We focus on the effect
Of the light fermions on the dynamics of the heavy bosons. It is shown that,
When the lattice potential is sufficiently deep to confine the bosons...
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