Article
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Neurology - 20 Jan 2009
Di Fonzo A, Dekker M C J, Montagna P, Baruzzi A, Yonova E H, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman L O M, Wouters C H, de Graaff E, Oyen W J G, Simons E J, Breedveld G J, Oostra B A, Horstink M W, Bonifati V
Abstract excerpt
BACKGROUND: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a locus was mapped in a single family with an overlapping phenotype, and an FBXO7 gene mutation was nominated as the likely disease cause. METHODS: We performed clinical and genetic...
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