title: Clinical genetics of familial progressive supranuclear palsy.
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.
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Rojo
authors.forename: R S
authors.initials: RS
authors.lastname: Pernaute
authors.forename: A
authors.initials: A
authors.lastname: Fontán
authors.forename: P G
authors.initials: PG
authors.lastname: Ruíz
authors.forename: J
authors.initials: J
authors.lastname: Honnorat
authors.forename: T
authors.initials: T
authors.lastname: Lynch
authors.forename: S
authors.initials: S
authors.lastname: Chin
authors.forename: I
authors.initials: I
authors.lastname: Gonzalo
authors.forename: A
authors.initials: A
authors.lastname: Rábano
authors.forename: A
authors.initials: A
authors.lastname: Martínez
authors.forename: S
authors.initials: S
authors.lastname: Daniel
authors.forename: P
authors.initials: P
authors.lastname: Pramstaller
authors.forename: H
authors.initials: H
authors.lastname: Morris
authors.forename: N
authors.initials: N
authors.lastname: Wood
authors.forename: A
authors.initials: A
authors.lastname: Lees
authors.forename: C
authors.initials: C
authors.lastname: Tabernero
authors.forename: T
authors.initials: T
authors.lastname: Nyggard
authors.forename: A C
authors.initials: AC
authors.lastname: Jackson
authors.forename: A
authors.initials: A
authors.lastname: Hanson
authors.forename: J G
authors.initials: JG
authors.lastname: de Yébenes
authors.forename: P
authors.initials: P
authors.lastname: Pramsteller
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003704:Dementia / Q000209:etiology; D004421:Dystonia / Q000209:etiology; D005260:Female; D005684:Gait; D006801:Humans; D008297:Male; D008875:Middle Aged; D009886:Ophthalmoplegia / Q000209:etiology; D010375:Pedigree; D013494:Supranuclear Palsy, Progressive / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D014202:Tremor / Q000209:etiology