Multisystem Lewy body disease and the other parkinsonian disorders

Nat Genet. 2015 Dec;47(12):1378-84. doi: 10.1038/ng.3454.


Here we prioritize as multisystem Lewy body disease (MLBD) those genetic forms of Parkinson's disease that point the way toward a mechanistic understanding of the majority of sporadic disease. Pathological diagnosis of genetic subtypes offers the prospect of distinguishing different mechanistic trajectories with a common mutational etiology, differing outcomes from varying allelic bases, and those disease-associated variants that can be used in gene-environment analysis. Clearly delineating parkinsonian disorders into subclasses on the basis of molecular mechanisms with well-characterized outcome expectations is the basis for refining these forms of neurodegeneration as research substrate through the use of cell models derived from affected individuals while ensuring that clinically collected data can be used for therapeutic decisions and research without increasing the noise and confusion engendered by the collection of data against a range of historically defined criteria.

MeSH terms

  • Humans
  • Lewy Body Disease / classification
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology*
  • Parkinsonian Disorders / classification
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / pathology*