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From Banco de Tejidos para Investigaciones Neurológicas (Drs. Hoenicka and Barabash, M. Godoy, L. Vidal, and Drs. Astarloa and de Yébenes), Madrid; Centro de Biología Molecular "Severo Ochoa" (Drs. Pérez and Avila), Madrid; Servicio de Neurología (Drs. Astarloa and de Yébenes), Fundación Jiménez Díaz, Madrid, Spain; Laboratory of Neurogenetics (Dr. Nygaard), Columbia University, New York, NY; and Mayo Clinic Jacksonville (Dr. Pérez-Tur), Florida.
Address correspondence and reprint requests to Dr. Janet Hoenicka, Banco de Tejidos para Investigaciones Neurológicas, Facultad de Medicina, Universidad Complutense de Madrid, Madrid 28040, Spain.
BACKGROUND: Recent studies have shown an association between a polymorphic tandem repeat allele, located in intron 9, of the tau gene and progressive supranuclear palsy (PSP).
OBJECTIVE: To investigate this tau polymorphism in individuals with a clinical diagnosis of sporadic or familial PSP as well as in cases confirmed by pathology.
METHODS: We analyzed the frequency of tau intronic polymorphism, the presence of linkage in two families with multiple cases of PSP, the splicing of exon 10, and direct sequence of the tau gene.
RESULTS: We found that patients with a clinical diagnosis of sporadic or familial PSP and individuals with PSP confirmed by neuropathology have greater prevalence of the A0 allele and A0/A0 genotype than controls. This finding, however, was also true for asymptomatic relatives of individuals with PSP. Linkage analysis in familial PSP excluded the location of the gene in the region 17q21. Furthermore, no significant differences were found in the level of expression of exon 10 in PSP, A0/A0 brain with respect to Alzheimer A3/A3 brain. We found no mutations in the tau gene in individuals with familial PSP.
CONCLUSIONS: A mutation in the tau gene was not the primary cause of familial PSP. The role of tau and the tau A0 allele in white PSP patients remains unknown, although it may represent a genetic risk factor for several neurodegenerative disorders.
Key words: Tau gene A0 allele—Progressive supranuclear palsy—Tau polymorphisms.
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