title: Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study.
abstract: We present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [(18)F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.
authors.affiliation: Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. d.j.nicholl@bham.ac.uk
authors.forename: D J
authors.initials: DJ
authors.lastname: Nicholl
authors.forename: J R
authors.initials: JR
authors.lastname: Vaughan
authors.forename: N L
authors.initials: NL
authors.lastname: Khan
authors.forename: S L
authors.initials: SL
authors.lastname: Ho
authors.forename: D E W
authors.initials: DE
authors.lastname: Aldous
authors.forename: S
authors.initials: S
authors.lastname: Lincoln
authors.forename: M
authors.initials: M
authors.lastname: Farrer
authors.forename: J D
authors.initials: JD
authors.lastname: Gayton
authors.forename: M B
authors.initials: MB
authors.lastname: Davis
authors.forename: P
authors.initials: P
authors.lastname: Piccini
authors.forename: S E
authors.initials: SE
authors.lastname: Daniel
authors.forename: G G
authors.initials: GG
authors.lastname: Lennox
authors.forename: D J
authors.initials: DJ
authors.lastname: Brooks
authors.forename: A C
authors.initials: AC
authors.lastname: Williams
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D003627:Data Interpretation, Statistical; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D014055:Tomography, Emission-Computed; D006113:United Kingdom