Pathological, clinical and genetic heterogeneity in progressive supranuclear palsy

• Published in: Brain (London, England : 1878) Vol. 125; no. Pt 5; pp. 969 - 975
• Main Authors: MORRIS, H. R, GIBB, G, REVESZ, T, KATZENSCHLAGER, R, WOOD, N. W, HANGER, D. P, STRAND, C, LASHLEY, T, DANIEL, S. E, LEES, A. J, ANDERTON, B. H
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.05.2002; Oxford Publishing Limited (England)
• Subjects: Aged; Aged, 80 and over; Biological and medical sciences; Brain - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Genetic Heterogeneity; Humans; Medical sciences; Middle Aged; Neurology; Supranuclear Palsy, Progressive - genetics; Supranuclear Palsy, Progressive - pathology; tau Proteins - genetics; Human; Nervous system diseases; Supranuclear ophthalmoplegia; Genotype; Neurofibrillary tangle; Genetic determinism; Differential diagnostic; Cerebral disorder; Heterogeneity; Eye disease; Phenotype; Tau protein; Central nervous system disease; Degenerative disease; Oculomotor syndrome; Brain stem syndrome; Haplotype

We have identified two groups of patients with clinically typical and atypical, pathologically diagnosed progressive supranuclear palsy (PSP), and investigated their genetic and molecular pathological characteristics. Those with clinically typical PSP are more likely to have the PSP susceptibility g...