Frontotemporal dementia (FTD): Understandings and experiences

Some families affected by MND also have a family history of frontotemporal dementia (FTD). This is because there are genetic variants which can cause both conditions, as well as other neurological symptoms. People who have inherited these genetic variants may develop either MND or FTD, but some people develop both problems at the same time. A repeat expansion of the C9orf72 gene (see glossary for explanation) is the most common genetic cause of MND and FTD in people from a white European background but is much rarer in Asian populations where other genes may be associated with an increased risk of MND and FTD instead.

This section covers:

  • Understanding the genetic link between MND and FTD
  • Experiences of relatives with FTD
  • Feelings around FTD: Imagining the future

Understanding the genetic link between MND and FTD

Some people we interviewed had relatives who had been affected by MND and FTD, though not everyone knew there was a genetic link between these diseases at first. Having relatives affected by both MND and FTD meant that it sometimes took a long time to realise that there was a genetic condition in the family.

Lillian lost her father, aunts and cousin to MND and frontotemporal dementia (FTD). She thought “there’s something going on here”, but only understood the link when she found out about the C9orf72 genetic variant.

Other people also realised that the genetic variant was more widespread in their family than they had previously thought. David and Lizbeth have both wondered if family members in previous generations could have had FTD; at the time, they were described as having gone “crackers” or “lost their marbles”. After Kelly and Jade’s aunt was diagnosed with C9orf72-related MND, their grandmother was diagnosed with FTD, having previously been diagnosed and treated for a different condition.

People were told about the genetic link between MND and FTD by a consultant or genetic counsellor, and others found out by seeing it written on a genetic test results letter, hearing from a family member, or reading online. In some cases, people didn’t find out until symptoms appeared (for one family this may have been because the C9orf72 gene variant had only recently been discovered). Finding this out could be a shock. It could be upsetting and distressing, to know that they or other relatives could be affected by either or both diseases, and hard to take in.

When she was diagnosed with MND, Alison was told that she could also get frontotemporal dementia, from which her mum had died. The way she was told made a difficult diagnosis “a lot harder to take”.

Unlike most of the people we spoke to whose family had been affected by MND and FTD, Alison did not carry the C9orf72 genetic variant. At the time, she was not offered further genetic testing but feels this should have been suggested as it could have provided useful information for her family (it is now common for people with MND to be tested for panels of gene variants).

Finding out about the genetic link between MND and FTD could be confusing. Some people didn’t know much about FTD and had to look it up on the internet. It was hard to understand how one gene could cause such a range of symptoms, and not everyone was aware of how they or other family members could be affected. Whilst some of the individuals we spoke to were interested to know more information on things like the likelihood of developing either MND or FTD, others didn’t want to know too much.

Experiences of relatives with FTD

Even where people knew FTD was a possibility in their family, the diagnosis of a relative could still come as a shock. Some people described very marked changes in their relatives, yet for others it took some time to realise something was wrong, as their behaviour was “an exaggeration” of how they already were. Louisa questioned whether her mum could have been affected for longer than they had thought.

There are different types of FTD and people can be affected in various ways. People we interviewed described a variety of symptoms in family members, including changes in behaviour and personality, memory problems and forgetfulness, confusion and lack of awareness, difficulty in communication, and visions. Where a family member had been diagnosed with MND-FTD, they also had physical symptoms. John and Maggie’s brother had been diagnosed with FTD, but there was a question mark over whether he had MND too.

Seeing relatives with FTD could be very difficult to deal with for family members, especially where they felt that they were losing the person they knew. JW highlights that Jean’s loss of speech, which first alerted them to the fact that something was wrong, made it even more challenging to deal with the FTD symptoms that came later.

JW’s wife, Jean, was diagnosed with MND-FTD, caused by the C9orf72 gene variant. Seeing her health decline was “horrible”.

One situation people found upsetting was when a family member with FTD forgot their name. This bothered Louisa a bit, but “I don’t take it personally… it’s not her fault”. Where people hadn’t been told about the diagnosis of FTD, seeing these symptoms could be confusing.

Calum wasn’t told the reason for his father’s memory problems until after he died. He was relieved to have an explanation but felt “blown away” that the C9orf72 gene variant could cause FTD.

FTD symptoms could also be challenging from a caregiving perspective.

Georgia Z found it challenging to adapt to her mum’s changing symptoms, as sometimes she was very aware and other times “it was like we’d lost her”.

Louisa’s mum has been diagnosed with FTD and has “transient capacity”. Because of this, the family have struggled to put in place Power of Attorney.

Although they have faced some challenges with care, Louisa described how her mum has been able to continue with her life as she had before.

Although her FTD means they can’t have the conversations they otherwise might have, Louisa sees it as a “blessing” that her mum is able to continue enjoying life.

Like Louisa, other people we spoke to also talked about how seeing relatives with FTD fed into their concerns for the future.

Feelings around FTD: Imagining the future

Living with an increased genetic risk of developing MND had an emotional and psychological impact for many of the people we spoke to and knowing that they could also develop FTD was an additional cause of anxiety. As Calum said, it’s a “double whammy”. Some people felt more worried about one condition than the other.

In Adam’s experience, FTD seems more “overtly scary” than MND. He finds it “overwhelming” to think that they can develop at the same time.

Jade isn’t as worried about the possibility of developing FTD as she is about MND because she doesn’t feel she would be as aware of what was happening.

Other people had less experience of seeing relatives with FTD, which affected how they felt about it. Lillian hadn’t seen the first-hand effects of FTD, so “it doesn’t quite hold the horrors that motor neurone disease held for me”. Lizbeth and Sam did not really think about the possibility of developing FTD, because they hadn’t seen relatives with this disease. Lizbeth said, “I don’t think I could choose which one I’d want; I’d rather not have either”.

Age also impacted some people’s worries for the future. Maggie did not worry about FTD because she had been told that it usually develops earlier than MND, though this is not always the case. She said, “I’m taking the route that I’m too old”.

Finding out that the C9orf72 gene variant could cause FTD was hard to cope with. Kirsty felt more frightened of getting FTD, but was concerned about her mum, Maggie, developing MND.

Some people we spoke to were taking part in research around FTD and hoped this would contribute to improved understandings of the disease and new treatments.

Further information and support around FTD can be found on the websites FTD Talk and Rare Dementia Support.

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