Neurológia pre prax 3/2012

Genetic causes of parkinsonism with focus on spinocerebellar ataxias

Multiple monogenetic forms of parkinsonism were identified during recent years. Monogenic disorders with clinical picture of classical parkinsonism or atypical parkinsonism can be categorized into 3 main groups. 1) monogenic disorders from the group with „PARK“ gene mutations; 2) mutations in „non-PARK“ genes, where classical parkinsonism can be a common finding, or where it can be even an isolated feature – such as genetic causes of dystonia – „DYT“ genes and spinocerebellar ataxias – „SCA“; 3) other „non-PARK“ genetic disorders that may present some parkinsonian features, but are typically characterised by features other than parkinsonism – i.e. Huntington’s disease, Pantothenate Kinase-Associated Neurodegeneration (PKAN), choreoacanthocytosis etc. In this review we will focus especially on the disorders from the „SCA“ and „DYT“ groups, where classical parkinsonism can be an isolated feature.

Keywords: parkinsonism, genetic, SCA, DYT.