Brain, Vol. 124, No. 8, 1666-1670,
August 2001
© 2001 Oxford University Press
Letter to the Editor |
Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation
1 Mayo Clinic, Jacksonville, Florida and 2 University of Minnesota, Minneapolis, Minnesota, USA
Correspondence to:
Z. K. Wszolek, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA E-mail: wszolek.zbignrew@mayo.edu
FTDP-17 = frontotemporal dementia with parkinsonism; PPND = pallido-ponto-nigral degeneration; PSP = progressive supranuclear palsy
Stanford and colleagues add a new kindred to the literature on parkinsonism linked to chromosome 17 (Stanford et al., 2000
). They identified a novel silent mutation (S305S) in exon 10 of the tau gene and suggest that this mutation causes progressive supranuclear palsy (PSP) pathology. We believe that this kindred should be considered to have frontotemporal dementia with parkinsonism (FTDP-17) rather than PSP.
The S305S mutation leads to an increase in the splicing of exon 10 and excessive production of tau isoforms containing four microtubule-binding repeats. A similar pathogenetic mechanism is observed in pallido-ponto-nigral degeneration (PPND), which is caused by an N279K mutation in the tau gene. We have studied a kindred with PPND for the last 14 years (Wszolek et al., 1992). Of the 311 family members, 39 individuals were affected by the disease; detailed clinical information is available on 30. On the basis of
References
1 Garvan Institute of Medical Research, Sydney, 2 Prince of Wales Medical Research Institute, Randwick and 3 Centre for Education and Research on Ageing, University of Sydney, Concord Hospital, Concord, Sydney, Australia.
Correspondence to:
Professor Petter Schofield, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney NSW 2001, Australia E-mail: p.schofield@garvan.unsw.edu.au
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