Outcome of Prevalence Study. Frontotemporal

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1 Outcome of Prevalence Study of Familial Frontotemporal Dementia

2 Presented by Dr Ejaz Nazir Consultant Old Age Psychiatrist South Staffordshire & Shropshire NHS Foundation o Trust Lecturer at Staffordshire University Senior Lecturer at University of Chester

3 BACKGROUND This study was conducted in Shropshire s hi Younger People with Dementia service where I am the lead Consultant The study was part of the case finding for the TRx Drug trial for behavioural variant FTD The study was published in the Geriatric Medicine in October 2013

4 Introduction Frontotemporal Dementia (FTD) is the second most common type of early onset dementia affecting those under the age of 65 years It accounts for around 20% of all cases

5 Introduction Dementia is not just a local problem, or a national problem for the UK but a global problem In the UK Dementia affects around 800, people Of those around 18,000 are under the age of 65 years and this number could be significantly higher.

6 Introduction Early onset dementia is a complex condition that t has special requirements in terms of having a dependent family or being at work at the time of diagnosis. FTD affects males and females in equal proportion

7 Introduction The condition was first classified as Pick s disease, named after the German Physician Arnold Pick FTD can be further subdivided into the behavioural variant, temporal variant and progressive non fluent aphasia Behavioural variant accounts for nearly 50% of cases of FTD

8 Introduction The clinical presentation for pre-senile FTD remains heterogenous It is reported that t between 30 and 50% of patients with behavioural variant FTD have a positive family history Inheritance pattern is typically autosomal dominant and the chance of one of the children inheriting the mutation is 50%

9 AIMS The focus of this study was to determine the Prevalence of Familial Frontotemporal Dementia in Shropshire s hi Younger People with Dementia Service

10 METHODOLOGY The total number of patient s under the Shropshire s s Younger People with Dementia Service was ascertained. The sample size was then cut down to only include those suffering with FTD between the ages of 45 and 64.

11 METHODOLOGY Then a review of the case notes of patients t suffering with FTD was carried out to look for evidence of a positive family history. Further evidence for a genetic cause for FTD and the nature of the gene implicated was undertaken

12 RESULTS 150 people in Shropshire have diagnosed d early onset dementia 17 of those were identified as having FTD

13 RESULTS Of these 17 patients two had a positive family history (11.76% of total FTD cases) Genetic testing of the two patients who were actually sibblings revealed mutation in the MAPT gene (microtubule associated protein tau) present on chromosone 17 which is responsible for encoding the tau protein.

14 RESULTS The prevalence of familial FTD in younger people with dementia in Shropshire is 1.33% (2/150). The prevalence of familial FTD in Shropshire of those aged is % (2/87000)

15 DISCUSSIONS Prevalence studies of familial FTD are rare, however there are population based studies on the prevalence of the condition as a whole. Two such studies in the UK based in cities) have shown figures of 15 per 100,000 inhabitants.

16 DISCUSSIONS In Shropshire we have demonstrated figures of 17 per 87,000 inhabitants t having FTD We feel our figures suggest that the condition is more common than was once thought.

17 DISCUSSION In the majority of familial FTD the tau and progranulin gene on chromosome 17 is implicated. However there is evidence to suggest that t chromosome 3 and 9 may play a role. There appears to be little difference in clinical presentation between genetic and sporadic causes.

18 DISCUSSION Nonetheless there is a definite need for specialist services with multi disciplinary input to manage this complex and challenging condition. i

19 Thank you all for your attention Any Questions?

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