Genetic mimics of the non-genetic atypical parkinsonian disorders - the 'atypical' atypical

Int Rev Neurobiol. 2019:149:327-351. doi: 10.1016/bs.irn.2019.10.008. Epub 2019 Nov 21.

Abstract

With the advent in genetics, many genetic parkinsonian conditions have been described that, in some cases, share features that resemble the widely recognized Richardson's syndrome (the commonest described phenotype of progressive supranuclear palsy pathology), corticobasal syndrome and multiple system atrophy syndromes. A positive family history, an earlier age at onset, and clinical features that are unusual for or characteristic of a certain condition, may help in the differential diagnosis. The recognition of these syndromes is quite important as, in contrast to the non-genetic atypical parkinsonian syndromes, a definite diagnosis can be made, there are implications for other generations and there may be an opportunity to participate in clinical trials with genetic treatments that are well under way.

Keywords: Atypical parkinsonism; Corticobasal degeneration; Genetic; Multiple system atrophy; PSP look-alikes; Progressive supranuclear palsy.

Publication types

  • Review

MeSH terms

  • Ataxia* / genetics
  • Ataxia* / metabolism
  • Ataxia* / physiopathology
  • Brain Diseases, Metabolic, Inborn* / genetics
  • Brain Diseases, Metabolic, Inborn* / metabolism
  • Brain Diseases, Metabolic, Inborn* / physiopathology
  • Frontotemporal Dementia* / genetics
  • Frontotemporal Dementia* / metabolism
  • Frontotemporal Dementia* / physiopathology
  • Humans
  • Multiple System Atrophy* / genetics
  • Multiple System Atrophy* / metabolism
  • Multiple System Atrophy* / physiopathology
  • Parkinsonian Disorders* / genetics
  • Parkinsonian Disorders* / metabolism
  • Parkinsonian Disorders* / physiopathology
  • Supranuclear Palsy, Progressive* / genetics
  • Supranuclear Palsy, Progressive* / metabolism
  • Supranuclear Palsy, Progressive* / physiopathology