Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz, Coro; Guevara, Rocio; Federoff, Monica; Hanagasi, Hasmet; Sina, Fardaz; Elahi, Elahe; A Schneider, Susanne; Schwingenschuh, Petra; Bajaj, Nin; Emre, Murat; B Singleton, Andrew; Hardy, John; P Bhatia, Kailash; Brandner, Sebastian; J Lees, Andrew; Houlden, Henry

doi:10.1002/mds.23221

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Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Shared by NobleBlocks on Sep 15, 2010 • 12:00 AM UTC

Authors:

Coro Paisán-Ruiz

Rocio Guevara

Monica Federoff

Abstract

Seven autosomal recessive genes associated with juvenile and young-onset Levodopa-responsive parkinsonism have been identified. Mutations in PRKN, DJ-1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of ...

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