Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Eur J Paediatr Neurol. 2011 May;15(3):271-5. doi: 10.1016/j.ejpn.2011.01.001. Epub 2011 Feb 12.

Abstract

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. The clinical phenotype of our case is more severe when compared with other published reports of symptomatic heterozygous ATP13A2 mutation carriers. To our knowledge, this is the youngest reported patient with JP associated with a heterozygous ATP13A2 mutation. Our findings expand the clinical phenotypic spectrum of JP associated with heterozygous ATP13A2 mutation.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Frameshift Mutation / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Parkinsonian Disorders / drug therapy
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / metabolism*
  • Proton-Translocating ATPases / deficiency*
  • Proton-Translocating ATPases / genetics*
  • Severity of Illness Index

Substances

  • ATP13A2 protein, human
  • Proton-Translocating ATPases