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The tau A0 allele in Parkinson's disease
Author(s) -
Golbe Lawrence I.,
Lazzarini Alice M.,
Spychala John R.,
Johnson William G.,
Stenroos Edward S.,
Mark Margery H.,
Sage Jacob I.
Publication year - 2001
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.1087
Subject(s) - progressive supranuclear palsy , tauopathy , allele , genotype , parkinson's disease , allele frequency , pathogenesis , medicine , genotype frequency , genetics , gastroenterology , biology , disease , neurodegeneration , gene
Parkinson's disease (PD) is primarily an α‐synucle‐ inopathy, rather than a tauopathy, but there is evidence for an indirect association of tau with the pathogenetic process in PD. We therefore assessed the frequency in PD of the tau A0 allele, a dinucleotide repeat marker that has been associated with a sporadic tauopathy, progressive supranuclear palsy (PSP). We found the A0 allele to comprise 79.2% of 758 alleles from PD patients and 71.2% of 264 control alleles ( P = 0.008). We also performed a meta‐analysis of three previous reports, two of which failed to produce statistically significant results. Taken together, they also support a PD/A0 allelic association, even after correction for misdiagnosis of PSP as PD ( P < 0.001). The A0/A0 genotype frequency in our patients (62.3%) did not differ significantly from that in controls (53.0%, P = 0.062), but the meta‐analysis, even after correction for misdiagnosis, showed a significant result, with P = 0.002. The frequency of A0 allele and the A0/A0 genotype were compatible with Hardy‐Weinberg equilibrium. The frequency of the A0 allele and the A0/A0 genotype in our patients with familial PD was not significantly greater than in those with sporadic PD. We conclude that the tau protein may play a small role in the pathogenesis of PD and that biochemical characterization of this role may suggest opportunities for PD prophylaxis. © 2001 Movement Disorder Society.