Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.
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.
Jones
A C
AC
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Yamamura
Y
Y
Almasy
L
L
Bohlega
S
S
Elibol
B
B
Hubble
J
J
Kuzuhara
S
S
Uchida
M
M
Yanagi
T
T
Weeks
D E
DE
Nygaard
T G
TG
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
D013482:Superoxide Dismutase