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Letter to the Editor |
Neuropathology in the S305S tau gene mutation
1 Prince of Wales Medical Research Institute and the University of New South Wales, 2 Centre for Education and Research on Ageing, The University of Sydney and 3 Department of Neurology, Westmead Hospital, Sydney, Australia
Correspondence to: Professor Glenda Halliday, Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney 2031, NSW, Australia E-mail: G.Halliday@unsw.edu.au
| The first 150 words of the full text of this article appear below. |
Sir,
We reported in Brain a novel, silent (S305S) mutation in the tau gene in two siblings and a history of presenile dementia in their mother (Stanford et al., 2000
). One sibling (III-15) had pathologically-proven progressive supranuclear palsy. The second affected individual (proband: III-14) has recently died at 63 years of age following 7 years of clinical symptoms, and the family consented to an autopsy for research purposes. Because of the controversy regarding the final neuropathological diagnosis in this family (Stanford et al., 2001; Wszolek et al., 2001) and the question raised regarding the overexpression of soluble 4R tau (Spillantini and Goedert, 2000), we would like to document the neuropathology of this second family member. The family history, initial clinical features and neuroimaging have been previously published (Stanford et al., 2000).
At the time of our previous publication (Stanford et al