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Kufor-Rakeb Syndrome/ Parkinson Disease Type 9

  • Vykuntaraju K. GowdaEmail author
  • Varunvenkat M. Srinivasan
  • Sanjay K. Shivappa
Scientific Letter

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

  1. 1.
    Najimal-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranucelar upgaze paresis and dementia: Kufor Rakeb syndrome. Acta Neurol Scand. 1994;89:347–52.Google Scholar
  2. 2.
    Hampshire DJ, Roberts E, Crow Y, et al. Kufor Rakeb syndrome, pallid-pyramidal degeneration with supranuclear upgaze paresis and dementia maps to 1p36. J Med Genet. 2001;38:680–2.CrossRefGoogle Scholar
  3. 3.
    Di Fonzo A, Chien HF, Socal M, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology. 2007;68:1557–62.CrossRefGoogle Scholar
  4. 4.
    Prashanth LK, Murugan S, Kamath V, et al. First report of Kufor-Rakeb syndrome (PARK9) from India and a novel nonsense mutation in ATP13A2 gene. Mov Disord Clin Pract. 2015;2:326–7.CrossRefGoogle Scholar
  5. 5.
    Dehay B, Ramirez A, Martinez-Vicente M, et al. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc Natl Acad Sci U S A. 2012;109:9611–6.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2020

Authors and Affiliations

  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBengaluruIndia
  2. 2.Department of PediatricsIndira Gandhi Institute of Child HealthBengaluruIndia

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