title: Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.
abstract: Genetic factors have been known to contribute to familial Parkinson's disease (PD), one of the most common neurodegenerative disorders. During the past decade, six of eleven causative genes linked to familial forms of PD have been identified to associate with autosomal-recessive young-onset Levodopa-responsive parkinsonism. Among these genes, mutations in Parkin, PINKl and DJ-1 are associated with a relatively typical parkinsonian phenotype with sustained treatment response to Levodopa. However, mutations inATP13A2, PLA2G6 and FBX07 are often associated with rapidly progressive parkinsonism and with additional features including pyramidal signs, cognitive decline and loss of sustained Levodopa responsiveness.Clarifying the phenotypes of each of these autosomal-recessive parkinsonian-pyramidal syndromes and understanding the mechanism ot these causative gene products might illuminate the pathogenesis of dopaminergic neuronal degeneration also in the common forms of PD.
authors.affiliation: Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Hsing-Jung
authors.initials: HJ
authors.lastname: Lai
authors.forename: Chin-Hsien
authors.initials: CH
authors.lastname: Lin
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
mesh_terms: D017668:Age of Onset; D001764:Blepharospasm / Q000150:complications / Q000235:genetics*; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics; D044783:F-Box Proteins / Q000235:genetics; D005192:Family Health; D005917:Globus Pallidus; D054522:Group VI Phospholipases A2 / Q000235:genetics; D006801:Humans; D009154:Mutation; D010302:Parkinson Disease, Secondary / Q000150:complications / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D010641:Phenotype; D006180:Proton-Translocating ATPases / Q000235:genetics
chemical_list: C514983:ATP13A2 protein, human; D044783:F-Box Proteins; C489149:FBXO7 protein, human; D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human; D006180:Proton-Translocating ATPases