皇家华人

Professor Nick Fox, Director of the UCL Dementia Research Centre, explains why improving support for rare dementias is so important.

Rare dementias 鈥� less common, young onset and inherited dementias 鈥� affect a larger number of people than their name suggests. Over 55 million people worldwide have dementia, and between 5-15% of those have a rare dementia. 听

Yet rare dementias are under-recognised, under-supported and poorly studied. Rare diseases can be hard to diagnose, and it can take years for patients to discover the cause of their symptoms. For example, frontotemporal dementia, which affects around 10,000 people in the UK, is often misdiagnosed or dismissed听as it causes changes to behaviour and language rather than memory. As a result, patients often do not receive the support they need.

A team at the UCL Dementia Research Centre, led by Professors Nick Fox and Seb Crutch, are working to change this. They founded the first ever support group for a rare dementia in the UK (and possibly in the world) over 20 years ago and now co-lead .

Combining social, emotional and practical support with research and training about rare dementias, Rare Dementia Support provides a valuable and much-needed service. It is funded by The National Brain Appeal and has over 5,000 members, including people affected by a rare dementia, family members and local, national and international health and social care professionals. As well as providing a forum for regular meetings and peer-to-peer support, it offers opportunities to talk to experts and participate in clinical trials.

Professor Fox says that the motivation for investigating rare forms of dementia first developed from his clinical work. People with these understudied illnesses were poorly served by clinical services and lacked support, and yet, he explains, it turns out that they held the key to our understanding of dementia more broadly.

Much of Professor Fox鈥檚 research focuses on the less than 1% of people with the familial form of Alzheimer鈥檚 disease, which manifests at a very young age. Familial Alzheimer鈥檚 disease (FAD) is caused by an inherited genetic fault and affects only a few hundred families across the whole of the UK.

Although FAD is very rare, studies of the condition have fundamentally changed our understanding of Alzheimer鈥檚 disease. They led to the breakthrough discovery of the very first gene for Alzheimer鈥檚, and while researching families with a genetic risk of FAD but lacking clinical symptoms, Professor Fox helped to show there is a long pre-symptomatic phase of the disease.

Using MRI imaging, he and his colleagues were able to measure atrophy (shrinkage due to loss of brain cells) in the brain during this phase. 鈥淲e were amazed to see that subtle but measurable changes were occurring years before symptoms emerged,鈥� he explains.

This advance was a major change in thinking. Findings from families with the rare condition were also critical to the development of a drug called lecanemab, which was recently granted full FDA approval and has been shown to slow the rate of cognitive decline in people with Alzheimer鈥檚 disease.

UCL鈥檚 Dementia Research Centre continues to be the UK hub for research and trials for FAD, and its clinical service is the national referral centre for the condition.

Another area of Professor Fox鈥檚 research is young-onset Alzheimer鈥檚 disease, estimated to affect 50,000 people in the UK. Although young onset is defined as someone who has symptoms before the age of 65, people often develop symptoms in their 50s or even earlier.

鈥淯nderstanding what causes听a disease like Alzheimer鈥檚 disease to manifest 30 or 40 years earlier than is typical holds a hugely important clue to the drivers of disease 鈥� and thereby to what might slow it,鈥� explains Professor Fox. Slowing the disease earlier on is likely to be easier than at later stages, with potentially much greater clinical benefit.

A good comparison is the development of statins for heart disease. The early work for this was done in patients with rare inherited high cholesterol, known as familial hypercholesterolaemia. Professor Fox is hopeful that understanding rare dementias will continue to drive forward the discovery of effective treatments for a whole range of neurodegenerative conditions.

The future looks promising. As well as transforming our understanding of familial and young-onset Alzheimer鈥檚 disease, UCL is currently leading some of the most cutting-edge first-in-human clinical drug trials for frontotemporal dementia.

Alongside this, the team aim to create the world鈥檚 first dedicated Rare Dementia Support Centre, hosted at 皇家华人, and have launched a .

鈥淭his is the beginning of a new era 鈥� and the discovery of drugs that slow the progression of Alzheimer鈥檚 is truly an historical step,鈥� says Professor Fox. Yet he cautions that there is much work still to be done. 鈥淒elivering these therapies equitably in already overstretched systems will be challenging. We also need to push for these advances to be extended to less common dementias that cause so much suffering and burden 鈥� and must not be left behind 鈥� and meanwhile improve the support for families affected by these devastating disorders.鈥�

Rare dementia: a patient鈥檚 view

A patient describes their experience of a rare dementia called posterior cortical atrophy (PCA), which is sometimes known as the 鈥榲isual variant鈥� of Alzheimer鈥檚. PCA affects brain regions that process visual and sensory information.

"One of the biggest misconceptions in general about dementia is that it is part of the ageing process鈥�.and it isn鈥檛. I think that many of the misconceptions about rare dementias are based on a lack of understanding and in some cases possibly ignorance.听

鈥淎 lot of people don鈥檛 look beyond the word dementia, including some in the medical profession. They make assumptions about what they believe dementia is; they don't look at the type of dementia. There is a lot of stigma with dementia: I'm always being told I can't do that (or) I can't go there unless someone goes with me.

鈥淎nother misconception in rare dementias is because (initially in many cases) they aren鈥檛 memory-led, it is assumed that you don鈥檛 have anything wrong that is dementia-related.

鈥淚 have learnt to live alongside my PCA with dignity, positivity, humour and importantly respect; while the latter may seem a strange thing to say, it isn鈥檛 really because you have to learn to respect where you are in your life, which in turn helps overcome the sometimes enormous challenges you face. So much that you used to take for granted has now become a daily challenge鈥︹��calculating, reading, writing, dressing, making a sandwich even.鈥�

On Rare Dementia Support:

鈥淩unning through its core is understanding, practicality and being informative with a built-in structured but flexible support mechanism and I have personally benefitted from all of these and more. The importance of the service is critical: the clue is in the title 'Rare Dementia Support'听because everyone at RDS in one way or another has the skills, expertise and understanding of rare dementias and how they affect our lives.鈥�