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Journal of Neurology

, Volume 260, Issue 5, pp 1441–1444 | Cite as

Parkinsonism, dementia and glucocerebrosidase mutations

  • Kathryn Peall
  • Neil P. RobertsonEmail author
Journal Club

A number of genes are now known to cause Parkinson’s disease (PD) and include Parkin, PTEN-induced putative kinase 1 (PINK1), DJ-1, ATP13A2, SNCA and leusine-rich repeat kinase 2 (LRRK2). The LRRK2 mutations are the most common and thought to be responsible for 5 % of familial and 3 % of all sporadic cases. However, almost two decades ago clinicians began to report Parkinsonian features in patients with Gaucher’s disease, an autosomal recessive lysosomal storage disease with a clear and uniform genetic aetiology caused by mutations in the glucocerebrosidase (GBA) gene located on the long arm of chromosome 1. As a result, a number of subsequent studies have investigated the association and potential causative role that GBA mutations may play in PD, eventually determining that GBAmutations represent a common risk factor for developing not only PD but also dementia with Lewy bodies (DLB). Intriguingly the common histopathological hallmark of both these disorders are Lewy bodies, which...

Keywords

Lewy Body Dementia With Lewy Body Lewy Body Disease Lewy Body Disorder Glucocerebrosidase Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Cardiff UniversityCardiffUK

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