title: Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.
abstract: Parkinson disease (PD) is a common neurodegenerative condition associated with degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. There is increasing evidence that genetic factors play a role in the etiology of PD, although genetic heterogeneity is likely. An autosomal dominant syndrome with many similarities to sporadic PD has been mapped to 4q21-22 in a large Italian pedigree and has been found to be due to mutation of the alpha-synuclein gene. However, this gene appears to account for only a minority of PD, and a susceptibility locus for autosomal dominant parkinsonism has recently been mapped, on 2p13. Autosomal recessive juvenile parkinsonism (JP), which shows marked clinical similarity to PD, maps to 6q25.2-q27. We found linkage to this region in a group of 15 families from four distinct ethnic backgrounds. A full genomic screen excluded other candidate regions. We have constructed a detailed genetic map of the linked region and have mapped the position of the manganese superoxide dismutase gene (SOD2). Recombination events restricted the JP locus to a 6.9-cM region and excluded SOD2. The apparent homozygosity for null alleles at D6S955 in one family suggested a deletion and finer localization of the JP locus.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: A C
authors.initials: AC
authors.lastname: Jones
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamura
authors.forename: L
authors.initials: L
authors.lastname: Almasy
authors.forename: S
authors.initials: S
authors.lastname: Bohlega
authors.forename: B
authors.initials: B
authors.lastname: Elibol
authors.forename: J
authors.initials: J
authors.lastname: Hubble
authors.forename: S
authors.initials: S
authors.lastname: Kuzuhara
authors.forename: M
authors.initials: M
authors.lastname: Uchida
authors.forename: T
authors.initials: T
authors.lastname: Yanagi
authors.forename: D E
authors.initials: DE
authors.lastname: Weeks
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
mesh_terms: D017668:Age of Onset; D000483:Alleles; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics
chemical_list: D013482:Superoxide Dismutase