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Diseases

Genetic and Rare Diseases Information Center (GARD)

Progressive supranuclear palsy


Other Names for this Disease
  • Supranuclear palsy, progressive
  • PSP
  • Steele-Richardson-Olszewski Syndrome
  • Familial progressive supranuclear palsy (type)
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Inheritance

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Is progressive supranuclear palsy inherited?

Progressive supranuclear palsy (PSP) is usually a sporadic condition (not inherited), occurring in people with no family history of PSP. However, in more recent years it has been found that in rare cases, PSP is familial. It has also been found that some people with PSP have close relatives with dementia or parkinsonism.[1]

Cases of familial PSP caused by a mutation in the MAPT gene have been reported. MAPT mutations are also known to be responsible for other familial tauopathies. Currently, the proportion of people with PSP who have a MAPT mutation is unknown.[1]

PSP caused by MAPT mutations is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation causing an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

While other locations on chromosomes have been linked to familial PSP, to our knowledge, no other causative genes have been identified. There may also be genes (including MAPT) in which "variants" increase a person's risk to develop PSP. In these cases, the condition itself is not inherited, but a predisposition to developing PSP or a related condition may be inherited.[2]

Because there are likely unidentified genetic causes of PSP, if the genetic cause in a family is unknown, we cannot estimate the likelihood that PSP might recur. Our understanding of the genetics of PSP is expanding, and studies are ongoing.[1]

People with a personal or family history of PSP with questions about recurrence risks or genetic testing are encouraged to speak with a genetics professional.
Last updated: 1/29/2016

References
  1. Im SY, Kim YE, Kim YJ. Genetics of Progressive Supranuclear Palsy. J Mov Disord. September, 2015; 8(3):122-129.
  2. Progressive supranuclear palsy. NORD. 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/287/viewAbstract.


Other Names for this Disease
  • Supranuclear palsy, progressive
  • PSP
  • Steele-Richardson-Olszewski Syndrome
  • Familial progressive supranuclear palsy (type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.