Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

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

doi:10.1016/j.ejpn.2011.01.001

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

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

Institut für Neurogenetik

21 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	European Journal of Paediatric Neurology
Jahrgang	15
Ausgabenummer	3
Seiten (von - bis)	271-275
Seitenumfang	5
ISSN	1090-3798
DOIs	https://doi.org/10.1016/j.ejpn.2011.01.001
Publikationsstatus	Veröffentlicht - 01.05.2011

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10.1016/j.ejpn.2011.01.001

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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.",

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AU - Fong, Choong Yi

AU - Rolfs, Arndt

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AU - Klein, Christine

AU - O'Callaghan, Finbar J K

PY - 2011/5/1

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N2 - 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.

AB - 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.

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Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Abstract

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