Progressive supranuclear palsy: earlier age of onset in patients with the tau protein AO/AO genotype

Generic studies have detected an association between the presence of the ta u gene A0 allele and patients with progressive supranuclear palsy (PSP). Th is study examined whether patients with this polymorphism exhibit distinct demographic or clinical characteristics. We studied 26 patients who fulfill ed clinical criteria for the diagnosis of PSP, 20 who had the A0/A0 genotyp e and 6 who had other genotypes. A questionnaire on demographic data, past medical history, familial history, and initial symptoms was completed as pa rt of the consultation. A complete neurological examination was performed a nd PSP symptoms were quantified following Golbe's PSP disability scale. We found a significant difference in the age at onset of PSP symptoms, which w as 65.9 +/- 5.3 years in the A0/A0 group and 71.2 +/- 5.6 in the non-A0/A0 group (P = 0.016). There were no significant differences in the years from disease onset between the two groups. Symptom severity did nor differ signi ficantly in patients with the different A0/A0 genotypes. The detection of s ignificantly lower age at: onset with the A0/A0 alleles is consistent with the known association of this genotype as a risk factor for PSP, No signifi cant differences were detected in symptom severity between the two groups o f patients.