Parkinson's disease.
Parkinson's disease is a common progressive bradykinetic disorder that can be accurately diagnosed. It is characterised by the presence of severe pars-compacta nigral-cell loss, and accumulation of aggregated alpha-synuclein in specific brain stem, spinal cord, and cortical regions. The main known risk factor is age. Susceptibility genes including alpha-synuclein, leucine rich repeat kinase 2 (LRRK-2), and glucocerebrosidase (GBA) have shown that genetic predisposition is another important causal factor. Dopamine replacement therapy considerably reduces motor handicap, and effective treatment of associated depression, pain, constipation, and nocturnal difficulties can improve quality of life. Embryonic stem cells and gene therapy are promising research therapeutic approaches.
Lees
Andrew J
AJ
Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London and the National Hospital for Neurology and Neurosurgery, London, UK. alees@ion.ucl.ac.uk
Hardy
John
J
Revesz
Tamas
T
D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D002423:Cause of Death; D015259:Dopamine Agents / Q000627:therapeutic use; D053595:Embryonic Stem Cells / Q000637:transplantation; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015316:Genetic Therapy; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy*; D020734:Parkinsonian Disorders / Q000235:genetics; D017346:Protein Serine-Threonine Kinases; D012307:Risk Factors; D017678:Sex Distribution; D051844:alpha-Synuclein / Q000235:genetics
D015259:Dopamine Agents; D051844:alpha-Synuclein; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005962:Glucosylceramidase