Early-onset autosomal-recessive parkinsonian-pyramidal syndrome
Journal
Acta Neurologica Taiwanica
Journal Volume
21
Journal Issue
3
Pages
99-107
ISSN
1028-768X
Date Issued
2012-09
Author(s)
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, PINK1 and DJ-1 are associated with a relatively typical parkinsonian phenotype with sustained treatment response to Levodopa. However, mutations in ATP13A2, PLA2G6 and FBXO7 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 of these causative gene products might illuminate the pathogenesis of dopaminergic neuronal degeneration also in the common forms of PD.
SDGs
Other Subjects
levodopa; parkin; parkin 14; parkin 15; parkin 9; unclassified drug; Afghanistan; autosomal recessive disorder; Babinski reflex; bradykinesia; brain disease; Brazil; Chile; China; cognitive defect; dementia; disease course; disease duration; dyskinesia; dystonia; gene mutation; genetic association; genetic susceptibility; genotype phenotype correlation; hyperreflexia; India; Iran; Italy; Japan; myoclonus; onset age; Pakistan; Parkinson disease; parkinsonian pyramidal syndrome; review; rigidity; saccadic eye movement; treatment response; tremor; visual hallucination; Age of Onset; Blepharospasm; Cognition Disorders; F-Box Proteins; Family Health; Globus Pallidus; Group VI Phospholipases A2; Humans; Mutation; Parkinson Disease, Secondary; Parkinsonian Disorders; Phenotype; Proton-Translocating ATPases
Type
review