Familial progressive supranuclear palsy: A literature review

Shinsuke Fujioka, Jay A. Van Gerpen, Ryan J. Uitti, Dennis W. Dickson, Zbigniew K. Wszolek

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background: Many genes/loci associated with Parkinsonian disorders have been identified. However, the genetic causes for a number of familial forms of Parkinsonian disorders remain to be elucidated. Objective: It was the aim of this paper to review the familial progressive supranuclear palsy (PSP) cases without any known gene mutations published in the English literature. Methods: We searched the PubMed database for reports of familial PSP cases without known mutations. Results: We found 19 PSP families. The mean age at onset was approximately 60 years, and the mean disease duration was about 8 years. Parkinsonism and ophthalmoplegia were most frequently reported, and a vast majority of patients manifested with these two symptoms. Other symptoms such as falls, postural instability and pyramidal signs were also common. A small subset of patients transiently responded to L-dopa therapy. Conclusion: There is an increasing number of reported familial PSP. A recently performed genome-wide association study indicated genetic factors for this condition. Furthermore, clinical, pathological and genetic investigations will open new avenues to the discovery of causative genes and new therapeutics for PSP.

Original languageEnglish (US)
Pages (from-to)180-182
Number of pages3
JournalNeurodegenerative Diseases
Issue number2-3
StatePublished - Jan 2014


  • Familial progressive supranuclear palsy
  • MAPT

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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