Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

  title={Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase},
  author={Alfredo Ram{\'i}rez and Andr{\'e} Heimbach and Jan Gr{\"u}ndemann and Barbara Stiller and Daniel J. Hampshire and L. Pablo Cid and Ingrid Goebel and Ammar Fayez Mubaidin and Abdul-Latif Wriekat and Jochen Roeper and A N Al-din and Axel M. Hillmer and Meliha Karsak and Birgit Liss and Christopher Geoffrey Woods and Maria Isabel Behrens and Christian Kubisch},
  journal={Nature Genetics},
Neurodegenerative disorders such as Parkinson and Alzheimer disease cause motor and cognitive dysfunction and belong to a heterogeneous group of common and disabling disorders. [] Key Method Here, we describe loss-of-function mutations in a previously uncharacterized, predominantly neuronal P-type ATPase gene, ATP13A2, underlying an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia (PARK9, Kufor-Rakeb syndrome). Whereas the wild-type protein was located in the…
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Update on the genetics of Parkinson's disease
  • T. Gasser
  • Biology
    Movement disorders : official journal of the Movement Disorder Society
  • 2007
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