TY - JOUR
T1 - Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation
AU - Fong, Choong Yi
AU - Rolfs, Arndt
AU - Schwarzbraun, Thomas
AU - Klein, Christine
AU - O'Callaghan, Finbar J K
PY - 2011/5/1
Y1 - 2011/5/1
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.
UR - http://www.scopus.com/inward/record.url?scp=79955466794&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2011.01.001
DO - 10.1016/j.ejpn.2011.01.001
M3 - Journal articles
C2 - 21316993
AN - SCOPUS:79955466794
SN - 1090-3798
VL - 15
SP - 271
EP - 275
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
IS - 3
ER -
