PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism.
We provide a pragmatic guide for clinicians, and detail the recent developments in the genetics of Parkinson's disease that have shaped our current understanding and management of this disease and other parkinsonian disorders. These developments have been rapid, and in total over 20 genes have been identified, three of which were discovered in the past year. Although there are undoubtedly more genes to be found, the major challenge for the future is to determine how they function and whether they interact. These genes help us to understand the heterogeneity of parkinsonism, and also inform on the molecular and clinical features of individual parkinsonisms. However, their discovery also requires us to raise issues about genetic testing and genetic counselling.
Healy
Daniel G
DG
Department of Molecular Neuroscience, Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, UK.
Abou-Sleiman
Patrick M
PM
Wood
Nicholas W
NW
D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D051843:Synucleins; D000099202:PTEN-Induced Putative Kinase
D009419:Nerve Tissue Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D011494:Protein Kinases; D051843:Synucleins; D000099202:PTEN-Induced Putative Kinase; C023088:pantothenate kinase