Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Choong Yi Fong; Arndt Rolfs; Thomas Schwarzbraun; Christine Klein; Finbar J K O'Callaghan

doi:10.1016/j.ejpn.2011.01.001

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.

Authors

Choong Yi Fong¹, Arndt Rolfs, Thomas Schwarzbraun, Christine Klein, Finbar J K O'Callaghan

Affiliation

¹ Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.

PMID: 21316993
DOI: 10.1016/j.ejpn.2011.01.001

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