Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation

Neurology. 2007 May 8;68(19):1553-4. doi: 10.1212/01.wnl.0000265228.66664.f4.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • Basal Ganglia Diseases / classification
  • Basal Ganglia Diseases / diagnosis*
  • Basal Ganglia Diseases / genetics*
  • Chromosomes, Human, Pair 1 / genetics
  • DNA Mutational Analysis / methods
  • DNA Mutational Analysis / standards
  • Diagnosis, Differential
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Humans
  • Lysosomes / genetics
  • Lysosomes / metabolism
  • Mutation, Missense / genetics
  • Parkinsonian Disorders / diagnosis*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology
  • Proton-Translocating ATPases / genetics*
  • Pyramidal Tracts / physiopathology
  • Syndrome

Substances

  • ATP13A2 protein, human
  • Genetic Markers
  • Proton-Translocating ATPases