title: Autosomal dominant parkinsonism: its etiologies and differential diagnoses.
abstract: Recently, several genes for parkinsonism have been identified. Among them, familial Parkinson's disease (PD) could be assigned for PARK disorders. PARK disorders consist of three different inherited modes such as autosomal recessive, autosomal dominant modes and susceptible genes. Some of them manifest not only typical parkinsonism, but also dystonia, pyramidal sign, and mental dysfunctions. While the monogenic forms of PARK disorders have been reviewed extensively, it is not easy to do differential diagnosis of PARK disorders due to the additional features except for typical parkinsonism. In this presentation, we focus on two different scenarios of patients with autosomal dominant parkinsonism: (1) parkinsonism with mutations in one of the PARK genes; (2) parkinsonism with mutations other than PARK genes or yet other genes where parkinsonism is a well recognized, concomitant, or even an isolated feature.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113-8421, Japan.
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
mesh_terms: D000818:Animals; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000209:etiology / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D051844:alpha-Synuclein / Q000235:genetics
chemical_list: C497604:SNCA protein, human; D051844:alpha-Synuclein