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Brain, Vol. 122, No. 7, 1233-1245, July 1999
© 1999 Oxford University Press

Clinical genetics of familial progressive supranuclear palsy

A. Rojo1, R. S. Pernaute1, A. Fontán1, P. G. Ruíz1, J. Honnorat4, T. Lynch5, S. Chin5, I. Gonzalo2, A. Rábano2, A. Martínez2, S. Daniel6, P. Pramsteller8, H. Morris7, N. Wood7, A. Lees6,7, C. Tabernero3, T. Nyggard5, A. C. Jackson9, A. Hanson9 and J. G. de Yébenes1,2

1 Department of Neurology, Fundación Jiménez Díaz, Universidad Autónoma de Madrid, 2 Banco de Tejidos para Investigaciones Neurológicas, Madrid, 3 Departamento de Neurología, Hospital del Insalud de Segovia, Spain, 4 Neurologie B, Hôpital Neurologique, Lyon, France, 5 Departments of Neurology and Pathology , Medical College of Physicians and Surgeons, Columbia University, New York, USA, 6 Parkinson's Disease Society Brain Research Centre, 7 National Hospital for Neurology and Neurosurgery, London, UK, 8 Department of Neurology, University of Insbruck, Austria and 9 Department of Neurology, Kingston General Hospital, Ontario, Canada

Correspondence to: Justo García de Yébenes MD, Servicio de Neurología, Fundación Jiménez Díaz Avda de Reyes Católicos 2, Madrid 28040, Spain E-mail: jgyebenes{at}fjd.es

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.

progressive supranuclear palsy; Steele–Richardson–Olzsewski syndrome; genetics; akinetic rigid syndrome; dementia

PSP = progressive supranuclear palsy


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