title: Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
abstract: Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: R F
authors.initials: RF
authors.lastname: Pfeiffer
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: R J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: R D
authors.initials: RD
authors.lastname: McComb
authors.forename: A J
authors.initials: AJ
authors.lastname: Stoessl
authors.forename: A J
authors.initials: AJ
authors.lastname: Strongosky
authors.forename: A
authors.initials: A
authors.lastname: Zimprich
authors.forename: B
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: D B
authors.initials: DB
authors.lastname: Calne
authors.forename: D W
authors.initials: DW
authors.lastname: Dickson
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D007150:Immunohistochemistry; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013378:Substantia Nigra / Q000473:pathology; D051843:Synucleins; D024801:Tauopathies / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; D051843:Synucleins; D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein