PSP Genetics

Does PSP run in families?

Short answer; It is very uncommon but not impossible. 

 

Here is a great article about it by NIH.

Published and Last updated: 1/29/2016 by NIH- rare diseases. 

 

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.

 

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.

 

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.

 

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.

 

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.

Back to blog

Leave a comment

Please note, comments need to be approved before they are published.

PSP Awareness Shop

Make a purchase with purpose. Each sale supports the fight against Atypical Parkinsonism through the Coleen Cunningham Foundation for PSP Awareness!

Shop Now
  • Lighting Up Burlington Pier for PSP Awareness: A Beacon of Hope

    Lighting Up Burlington Pier for PSP Awareness: ...

    Laura Louizos

    On May 30th, from 8 PM to midnight, the Burlington Pier will be bathed in a radiant teal glow. This illuminating event is more than just a beautiful spectacle; it’s...

    Lighting Up Burlington Pier for PSP Awareness: ...

    Laura Louizos

    On May 30th, from 8 PM to midnight, the Burlington Pier will be bathed in a radiant teal glow. This illuminating event is more than just a beautiful spectacle; it’s...

  • Ice Cream Challenge

    Ice Cream Challenge

    Laura Louizos

    Atypical Parkinsonism Ice Cream Challenge for PSP, MSA, CBD and DLB PSP- Progressive Supranuclear Palsy MSA- Multiple System Atrophy CBD- Corticobasal Degeneration DLB- Dementia with Lewy Bodies  May is Awareness...

    Ice Cream Challenge

    Laura Louizos

    Atypical Parkinsonism Ice Cream Challenge for PSP, MSA, CBD and DLB PSP- Progressive Supranuclear Palsy MSA- Multiple System Atrophy CBD- Corticobasal Degeneration DLB- Dementia with Lewy Bodies  May is Awareness...

  • 🌟 You’re Invited to Tim Talks! 🌟

    🌟 You’re Invited to Tim Talks! 🌟

    Laura Louizos

    Join us this Thursday, April 25th, from 7-9 PM ET for an inspiring session with PSP Warrior, Tim Brown! This month, we’re diving into awareness topics to gear up for...

    🌟 You’re Invited to Tim Talks! 🌟

    Laura Louizos

    Join us this Thursday, April 25th, from 7-9 PM ET for an inspiring session with PSP Warrior, Tim Brown! This month, we’re diving into awareness topics to gear up for...

  • Happy National Volunteer Week!

    Happy National Volunteer Week!

    Laura Louizos

    As we celebrate this special week, we want to extend a heartfelt thank you to all our dedicated volunteers. Your selfless contributions and unwavering commitment have been instrumental in making...

    Happy National Volunteer Week!

    Laura Louizos

    As we celebrate this special week, we want to extend a heartfelt thank you to all our dedicated volunteers. Your selfless contributions and unwavering commitment have been instrumental in making...

1 of 4