Clinical genetics of familial progressive supranuclear palsy

Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lunch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, Huw, Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A. and de Yebenes, J. G. 1999. Clinical genetics of familial progressive supranuclear palsy. Brain 122 (7) , pp. 1233-1245. 10.1093/brain/122.7.1233

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Abstract

Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Oxford University Press
ISSN:	0006-8950
Last Modified:	26 Nov 2015 15:45
URI:	https://orca.cardiff.ac.uk/id/eprint/81392

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