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a Neurogenetics
Section, Correspondence to: Dr NW Wood,
Neurogenetics Section, University Department of Clinical Neurology,
Institute of Neurology, Queen Square, London WC1N 3BG, UK. Telephone
0044 171 837 3611; fax 0044 171 278 5616; email n.wood{at}ion.ucl.ac.uk
Received 9 July 1998 and in revised form 2 November 1998;
Accepted 10 November
1998 Progressive supranuclear palsy is characterised pathologically
by the deposition of neurofibrillary tangles consisting of tau protein.
Patients with the disease have been reported to have a more frequent
occurrence of one allele of an intronic polymorphism of the
tau gene. Other diseases which may involve
tau deposition include frontotemporal dementia and corticobasal
degeneration. This polymorphism has been studied in a series of
subjects with progressive supranuclear palsy, corticobasal
degeneration, frontotemporal dementia, idiopathic Parkinson's disease,
and normal controls to (1) confirm this association in a large series
and (2) to investigate a possible role for this association in other
disorders which involve tau deposition. The results confirm the finding
of an overrepresentation of the A0 allele and the A0/A0 genotype in patients with progressive supranuclear palsy, in the largest series reported to date. The A0 allele was found in 91% of patients with progressive supranuclear palsy as opposed to 73% of controls
(p<0.001) and the A0/A0 genotype was seen in 84% of patients as
compared with 53% of controls (p<0.01). There was no significant
difference between patients with Parkinson's disease, frontotemporal
dementia, or corticobasal degeneration, and controls. The A0 allele may have a direct effect on tau isoform expression in progressive supranuclear palsy or it may be in linkage disequilibrium with an
adjacent determinant of tau gene expression.
The explanation for this difference between a predisposition factor to
progressive supranuclear palsy and the other conditions may lie in the
molecular pathology of these diseases.
Keywords:
progressive supranuclear palsy;
tau;
A0
polymorphism
© 1999 by Journal of Neurology, Neurosurgery, and Psychiatry
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