Article
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
Movement disorders : official journal of the Movement Disorder Society - 15 Sept 2010
Paisán-Ruiz Coro, Guevara Rocio, Federoff Monica, Hanagasi Hasmet, Sina Fardaz, Elahi Elahe, Schneider Susanne A, Schwingenschuh Petra, Bajaj Nin, Emre Murat, Singleton Andrew B, Hardy John, Bhatia Kailash P, Brandner Sebastian, Lees Andrew J, Houlden Henry
Abstract excerpt
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 dementia. On the other hand, Kufor-Rakeb syndrome has additional signs, which distinguish it clearly from...
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