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

Generic studies have detected an association between the presence of the tau gene A0 allele and patients with progressive supranuclear palsy (PSP). This study examined whether patients with this polymorphism exhibit distinct demographic or clinical characteristics. We studied 26 patients who fulfilled clinical criteria for the diagnosis of PSP, 20 who had the A0/A0 genotype and 6 who had other genotypes. A questionnaire on demographic data, past medical history, familial history, and initial symptoms was completed as part of the consultation. A complete neurological examination was performed and PSP symptoms were quantified following Golbe's PSP disability scale. We found a significant difference in the age at onset of PSP symptoms, which was 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 significantly in patients with the different A0/A0 genotypes. The detection of significantly 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 significant differences were detected in symptom severity between the two groups of patients.