Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

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 know...

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Bibliographic Details
Published in:European journal of paediatric neurology 2011-05, Vol.15 (3), p.271-275
Main Authors: Fong, Choong Yi, Rolfs, Arndt, Schwarzbraun, Thomas, Klein, Christine, O’Callaghan, Finbar J.K
Format: Article
Language:English
Subjects:
[ 123I] SPECT
ATP13A2 gene
Child
Frameshift Mutation - genetics
Genetic Predisposition to Disease - genetics
Heterozygote
Heterozygous mutation
Humans
Juvenile parkinsonism
Male
Neurology
PARK9
Parkinsonian Disorders - drug therapy
Parkinsonian Disorders - genetics
Parkinsonian Disorders - metabolism
Pediatrics
Proton-Translocating ATPases - deficiency
Proton-Translocating ATPases - genetics
Severity of Illness Index
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Summary: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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2011.01.001