TY - JOUR
T1 - Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups
T2 - Detailed genetic mapping of the linked region
AU - Jones, Alison C.
AU - Yamamura, Yasuhiro
AU - Almasy, Laura
AU - Bohlega, Saeed
AU - Elibol, Bülent
AU - Hubble, Jean
AU - Kuzuhara, Shigeki
AU - Uchida, Masao
AU - Yanagi, Tsutomu
AU - Weeks, Daniel E.
AU - Nygaard, Torbjoern G.
N1 - Funding Information:
The authors thank the families who cooperated with this study and thank Hong Shen and Caiping Chen for technical assistance. The study was supported by National Institutes of Health grant NS32035 (to T.G.N.), the Parkinson's Disease Foundation (support to T.G.N. and A.C.J.); the Patterson Trust (support to T.G.N. and A.C.J.), the Lowenstein Foundation (support to T.G.N. and A.C.J.), the University of Pittsburgh (support to D.E.W.), and the Wellcome Trust Centre for Human Genetics, Oxford (support to D.E.W.).
PY - 1998/7
Y1 - 1998/7
N2 - 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.
AB - 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.
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U2 - 10.1086/301937
DO - 10.1086/301937
M3 - Article
C2 - 9634534
AN - SCOPUS:0032231463
VL - 63
SP - 80
EP - 87
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 1
ER -