Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: Detailed genetic mapping of the linked region

Alison C. Jones, Yasuhiro Yamamura, Laura Almasy, Saeed Bohlega, Bülent Elibol, Jean Hubble, Shigeki Kuzuhara, Masao Uchida, Tsutomu Yanagi, Daniel E. Weeks, Torbjoern G. Nygaard

Research output: Contribution to journalArticlepeer-review

52 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)80-87
Number of pages8
JournalAmerican Journal of Human Genetics
Volume63
Issue number1
DOIs
StatePublished - Jul 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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