• Huw R Morris.
• Department of Neurology, Ophthalmology and Audiological Medicine, School of Medicine, Cardiff University, Cardiff, UK. morrishr@cf.ac.uk
• Ann. Med. 2005 Jan 1; 37 (2): 86-96.

AbstractTwenty years ago Parkinson's disease (PD) was thought of as an environmentally determined neurodegenerative disease. It is now known that there are two autosomal dominant disease genes, alpha-synuclein and dardarin, and three genes responsible for autosomal recessive PD, parkin, DJ-1 and PINK-1. Although these gene mutations are not common, their identification has led to a new understanding of the pathogenesis of PD, and to a development in the understanding of the clinical and pathological definitions of PD and Lewy body disease. Ultimately, these advances may lead to the development of new disease-modifying therapies, but more immediately these discoveries have led to a more coherent view of the spectrum of PD and Lewy body diseases and to accurate genetic diagnosis and counselling for some families.

24 keywords...

hide…