Rojo, A and Pernaute, RS and Fontan, A and Ruiz, PG and Honnorat, J and Lynch, T and Chin, S and Gonzalo, I and Rabano, A and Martinez, A and Daniel, S and Pramsteller, P and Morris, H and Wood, N and Lees, A and Tabernero, C and Nyggard, T and Jackson, AC and Hanson, A and de Yebenes, JG (1999) Clinical genetics of familial progressive supranuclear palsy. BRAIN , 122 1233 - 1245.
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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 ties, 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.
|Title:||Clinical genetics of familial progressive supranuclear palsy|
|Keywords:||progressive supranuclear palsy, Steele-Richardson-Olzsewski syndrome, genetics, akinetic rigid syndrome, dementia, RICHARDSON-OLSZEWSKI-SYNDROME, 2 SIBLINGS, DIAGNOSIS, CRITERIA, DISORDERS, DEMENTIA, FEATURES, TAU|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > RLW Institute of Neurological Sciences
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