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Case Reports
. 2003 Aug;54(2):271-4.
doi: 10.1002/ana.10663.

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

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Case Reports

V体育安卓版 - Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

Stephen Hague (V体育官网) et al. Ann Neurol. 2003 Aug.

Abstract

Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ-1 in 107 early-onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein VSports手机版. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD. .

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  • The R98Q variation in DJ-1 represents a rare polymorphism.
    Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman SB, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. Hedrich K, et al. Ann Neurol. 2004 Jan;55(1):145; author reply 145-6. doi: 10.1002/ana.10816. Ann Neurol. 2004. PMID: 14705128 No abstract available.

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