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   FACTSHEET 2: What is familial frontotemporal dementia?   
      
      
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   Frontotemporal dementia or FTD is a progressive disorder of the brain. It can   
   affect behaviour, language skills and movement.   
   For many people with FTD, the cause is not known. In around a third of people   
   however it can be triggered by a genetic problem - we call this familial FTD.   
      
   The main genes involved are called:   
      
   Tau or MAPT   
   Progranulin or GRN   
   C9ORF72   
   There are also some other rare genetic causes of FTD which are uncommon. These   
   genes are called:   
      
   Valosin-containing protein or VCP   
   Charged multivesicular body protein 2B or CHMP2B   
   Fused in sarcoma or FUS   
   Transactive response DNA binding protein or TARDBP   
   Sequestosome 1 or SQSTM1   
   Dynactin or DCTN1   
   Some families have a clear family history of FTD but no abnormal genes have   
   been identified at present.   
      
   How likely am I to inherit FTD?   
      
   In people with abnormalities in these genes there is a 50 per cent chance that   
   the abnormal gene will be passed on to their children.   
      
   However there are a couple of important things to know:   
      
   The age at which symptoms of FTD begin is very variable. Some people develop   
   FTD around the same age that their parent developed it. However for other   
   people there can up to twenty years difference in the age that FTD develops.   
   In some of the genes, particularly C9ORF72, there can be something that is   
   called incomplete penetrance. This means that although someone may carry the   
   abnormal gene they may not develop FTD during their lifetime.   
   How is familial FTD diagnosed?   
      
   Usually a diagnosis of FTD has already been made by a specialist by performing   
   a series of tests including a scan of the brain.   
      
   A genetic test can then be performed on a blood sample in people who the   
   specialist thinks may have a genetic cause of their FTD.   
      
   The test is usually done because a number of other family members have FTD or   
   an associated disorder.  However it is also done by some specialists when   
   symptoms or brain scans suggest familial FTD.   
      
   What can I do if a relative has familial FTD?   
      
   In families who are known to have a gene abnormality, expert genetic advice is   
   important.   
      
   If you are worried about your risk of developing familial FTD or wish to   
   discuss it further, your GP will be able to refer you to a specialist genetics   
   service to discuss your concerns and arrange genetic testing if needed.   
      
   The results of any genetic test have important implications not only for the   
   person being tested but also for the rest of the family. It is important to   
   discuss these carefully with someone who has expertise in genetic counselling,   
   and also with the    
   family, before any genetic tests are performed.   
      
   What support is available?   
      
   The Familial FTD support group has been set up to help members of families   
   with familial FTD in the UK.   
      
   The aim is to provide the opportunity for people to find out more information   
   about familial FTD and to meet other similar families.   
      
   The website can be found at www.ftdsupport.org where more information is   
   available.   
      
   Another useful organization is the Genetic Alliance - www.geneti   
   alliance.org.uk.   
      
   Is there research into familial FTD?   
      
   The Genetic FTD Initiative or GENFI is a group of research centres across   
   Europe and Canada studying familial FTD.    
      
   The aim is to gain a better understanding of the disorder using brain imaging,   
   blood and spinal fluid tests, and psychology testing.   
      
   GENFI studies people who are over the age of 18 and have a first-degree   
   relative with familial FTD.   
      
   More information is available at www.genfi.org.uk.   
      
      
   http://www.ftdtalk.org/ftd-factsheets/factsheet-2-what-is-famili   
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