rs63751122

This is an issue of Annals of Neurology (Vol. 47, No. 2, 2000) containing 10 brief communications. The most significant genetic finding is the association between the MAPT tau gene A0/A0 genotype and Parkinson's disease (154 PD patients, 152 controls, p=0.049 for genotype, p=0.018 for A0 allele frequency 79.27% vs 71%). Additional genetic studies report novel APP L723P mutation causing increased Aβ42/43 levels in familial Alzheimer's disease, DCX mutations in 53% of double cortex neuronal migration disorder cases (16/30 patients), and CLN2 mutations enabling prenatal diagnosis of late infantile neuronal ceroid lipofuscinosis. A case series of 70 PRNP E200K mutation carriers with Creutzfeldt-Jakob disease identified earlier age of onset in homozygotes (50.4 years vs 59.1 years, p=0.03). Non-genetic studies include tau protein's role in PP-MS MRI lesion heterogeneity, failure of CP-122,288 migraine drug trial, depression as seizure risk factor in older adults (OR 3.7), vitamin E deficiency in Marinesco-Sjögren chylomicron retention disease, and CCR5+ T lymphocytes in multiple sclerosis.