Advertisement

Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report

      Abstract

      Homozygous mutations as well as compound heterozygous mutations in PANK2 or PLA2G6 have been reported to bring about early-onset parkinsonism (EOP). However, EOP caused by joint heterozygous mutations of the two genes is unusual. Here, we report a case of complex heterozygous mutations involving both the PANK2 and PLA2G6 genes in a Chinese woman.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Parkinsonism & Related Disorders
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Hájek M.
        • Adamovicová M.
        • Herynek V.
        • Skoch A.
        • Jírů F.
        • Krepelová A.
        • Dezortová M.
        MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients.
        Eur. Radiol. 2005; 15: 1060-1068
        • Wu Y.
        • Jiang Y.
        • Gao Z.
        • Wang J.
        • Yuan Y.
        • Xiong H.
        • Chang X.
        • Bao X.
        • Zhang Y.
        • Xiao J.
        • Wu X.
        Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.
        Eur. J. Neurol. 2009; 16: 240-245
        • Wu-Chou Y.H.
        • Lu C.S.
        • Chang H.C.
        • Chen R.S.
        • Weng Y.H.
        • Lai S.C.
        • Yeh P3 T.H.
        153 PLA2G6 mutations in a Taiwanese cohort of early onset parkinsonism.
        Park. Relat. Disord. 2009; 15: S187
        • Paisán-Ruiz C.
        • Guevara R.
        • Federoff M.
        • Hanagasi H.
        • Sina F.
        • Elahi E.
        • Schneider S.A.
        • Schwingenschuh P.
        • Bajaj N.
        • Emre M.
        • Singleton A.B.
        • Hardy J.
        • Bhatia K.P.
        • Brandner S.
        • Lees A.J.
        • Houlden H.
        Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
        Mov. Disord. 2010; 25: 1791-1800
        • Shi C.H.
        • Tang B.S.
        • Wang L.
        • Lv Z.Y.
        • Wang J.
        • Luo L.Z.
        • Shen L.
        • Jiang H.
        • Yan X.X.
        • Pan Q.
        • Xia K.
        • Guo J.F.
        PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.
        Neurol. 2011; 77: 75-81