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Autosomal dominant Parkinson's disease. 2012

Christina Sundal, and Shinsuke Fujioka, and Ryan J Uitti, and Zbigniew K Wszolek
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal recessive genes such as PRKN, DJ-1, and PINK1. Among these genes, LRRK2 is the most prevalent. Additionally, susceptibility variants located on some of these genes are widely recognized as risk factors for PD in certain ethnic populations. Alpha synuclein Lewy body (LB) pathology, the hallmark of sporadic PD, is predominantly seen in carriers of SNCA and LRRK2. Recently two new autosomal dominant PD genes have been discovered, eukaryotic translation initiation factor 4-gamma (EIF4G1) and vacuolar protein sorting 35 (VPS35). EIF4G1 is associated with LB pathology; however, only limited data currently exists on pathology of the VPS35. Thus, it remains to be seen if LB pathology can be identified on autopsy examination of carriers of VPS35 gene. The mechanism behind the cause of PD has yet to be elucidated; however, genetic studies on autosomal dominant PD have provided novel insights into the potential etiology of PD. Thus, paving the way for future targeted therapies aimed at disease prevention and cure.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D020734 Parkinsonian Disorders A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. Autosomal Recessive Juvenile Parkinsonism,Familial Juvenile Parkinsonism,Parkinsonian Syndrome,Parkinsonism,Parkinsonism, Experimental,Parkinsonism, Juvenile,Ramsay Hunt Paralysis Syndrome,Autosomal Dominant Juvenile Parkinson Disease,Autosomal Dominant Juvenile Parkinsonism,Autosomal Dominant Parkinsonism,Autosomal Recessive Juvenile Parkinson Disease,Autosomal Recessive Parkinsonism,Chromosome 6-Linked Autosomal Recessive Parkinsonism,Experimental Parkinson Disease,Experimental Parkinsonism,Experimental Parkinsonism, MPTP-Induced,Familial Parkinson Disease, Autosomal Recessive,Juvenile Parkinson Disease,Juvenile Parkinson Disease, Autosomal Dominant,Juvenile Parkinson Disease, Autosomal Recessive,Juvenile Parkinsonism, Autosomal Dominant,Juvenile Parkinsonism, Autosomal Recessive,MPTP-Induced Experimental Parkinsonism,Parkinson Disease 2,Parkinson Disease 2, Autosomal Recessive Juvenile,Parkinson Disease Autosomal Recessive, Early Onset,Parkinson Disease, Autosomal Dominant. Juvenile,Parkinson Disease, Experimental,Parkinson Disease, Familial, Autosomal Recessive,Parkinson Disease, Juvenile,Parkinson Disease, Juvenile, Autosomal Dominant,Parkinson Disease, Juvenile, Autosomal Recessive,Parkinsonian Diseases,Parkinsonian Syndromes,Parkinsonism, Early Onset, with Diurnal Fluctuation,Parkinsonism, Early-Onset, With Diurnal Fluctuation,Parkinsonism, Juvenile, Autosomal Dominant,Parkinsonism, Juvenile, Autosomal Recessive,Chromosome 6 Linked Autosomal Recessive Parkinsonism,Diseases, Experimental Parkinson,Dominant Parkinsonism, Autosomal,Experimental Parkinson Diseases,Experimental Parkinsonism, MPTP Induced,Experimental Parkinsonisms,Juvenile Parkinsonism,Juvenile Parkinsonism, Familial,Juvenile Parkinsonisms,MPTP Induced Experimental Parkinsonism,Parkinson Diseases, Experimental,Parkinsonism, Autosomal Dominant,Parkinsonism, Autosomal Recessive,Parkinsonism, Familial Juvenile,Parkinsonism, MPTP-Induced Experimental,Parkinsonisms, Experimental,Parkinsonisms, Juvenile,Recessive Parkinsonism, Autosomal

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