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QuestionChoice
Frontotemporal dementia typically affects patients who are younger than 65 years and causes changes in their behaviour and personality. Memory and visuospatial skills are relatively preserved. This patient has personality change and is young, but frontotemporal dementia is not a feature of Down's syndrome, and Alzheimer's dementia is therefore more likely.
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Frontotemporal lobe dementia
QuestionChoice
Dementia pugilistica is a type of dementia caused by repetitive head injuries. It is also known as chronic traumatic encephalopathy. It is associated with professions where repeated head injury occurs, such as boxing or playing football.  This patient has no history of repeat head injury and this therefore does not represent a likely differential.
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Dementia Pugilistica
QuestionChoice
Depression is an important differential since the loss of sociability may represent anhedonia. However, the verbal aggression and low MMSE are not clinical features of depression and as such, Alzheimer's disease should be considered. In severe depression, a pseudo-dementia type picture may occur, but there are no clinical features here to suggest this patient has a severe depressive illness.
53328
b
Depression
QuestionChoice
Delirium is an acute confusional state characterised by  fluctuating consciousness. Delirium has several causes which can be remembered with the mnemonic PINCHME: pain, infection, nutrition, constipation, hydration, medications and the environment. It is important to exclude causes of delirium in patients with acute onset confusion. However, in this patient, the decline has been gradual, over months, as opposed to acute.
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Delirium
QuestionChoice
Patients with Down's syndrome are at a high risk of developing early-onset Alzheimer's disease. This is because they have a greater quantity of amyloid plaques and tau protein within their brain cells at a younger age. Changes in personality and behaviour are especially associated with Alzheimer's disease in the context of Down's syndrome. Note that his MMSE score is less than 27 which indicates there is cognitive decline.
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Alzheimer's disease
QuestionComment
Amyloid precursor protein (APP) is found on chromosome 21 (which people with downs have 3 copies of). Hence more amyloid will be made increasing their risk of Alzheimer's
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subscriber
Kinase Sclerosis
Concept
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# Summary

Frontotemporal dementia (FTD) is a neurodegenerative disorder primarily affecting the frontal and temporal lobes of the brain. It characteristically presents at a younger age compared to other forms of dementia, with early personality changes and language impairments being key signs and symptoms. Investigations often involve neuroimaging and genetic testing, particularly in cases of suspected hereditary conditions. The management of FTD includes symptom-targeted strategies, with behavioural and psychological interventions playing a crucial role. One specific cause of FTD is Pick's disease, characterised by the accumulation of TAU proteins in neurons, identified post-mortem.

# Definition

Frontotemporal dementia (FTD) is a heterogeneous group of neurodegenerative disorders characterised by progressive atrophy of the frontal and/or temporal lobes of the brain, leading to impairments in behaviour, personality, language, and motor functions.

# Epidemiology

FTD is one of the most common forms of early-onset dementia, with the age of onset typically occurring during the sixth or seventh decade of life. The prevalence and incidence rates of FTD vary globally due to genetic and environmental factors.

# Aetiology

The precise aetiology of FTD is unknown; however, the condition is thought to result from the atrophy of the frontal and temporal lobes of the brain. Genetic mutations can play a role, particularly in familial cases. One specific cause is Pick's disease, characterised by the presence of "Pick's bodies" - accumulations of TAU protein within neurons. FTD is associated with ALS - 40% of people with FTD carry same genetic mutation which is commonest cause of ALS.

# Signs and Symptoms

FTD typically presents with:

- Personality changes: Patients often exhibit disinhibited behaviour and apathy early on.
- Language impairments: Early language difficulties can be present, varying from mild problems with word finding to severe aphasia.
- Cognitive decline: Although memory may be relatively preserved in the early stages, executive function is frequently impaired.
- Motor abnormalities: Some patients may develop features of motor neuron disease, including muscle weakness and dysarthria.

# Differential Diagnosis

The differential diagnosis for FTD includes other forms of dementia and neurological disorders, such as:

- Alzheimer's disease: Characterised by memory loss, confusion, trouble handling money and paying bills, and mood changes. Pathology is defined by the presence of beta-amyloid plaques and neurofibrillary tangles.
- Vascular dementia: Presents with step-wise cognitive decline, focal neurological signs, and evidence of cerebrovascular disease on neuroimaging.
- Creutzfeldt-Jakob disease: Rapidly progressive dementia with neurological signs such as myoclonus, ataxia, and visual disturbances. Periodic sharp wave complexes on EEG are suggestive.
- Primary progressive aphasia: Characterised by gradual, insidious decline in language abilities with relative preservation of other cognitive functions, at least in the early stages.

# Investigations

Diagnosis of FTD often involves:

- Neuroimaging: Structural imaging (MRI or CT) can show atrophy of the frontal and/or temporal lobes. Specifically, MRI can show focal gyral atrophy and knife-blade appearance.
- Genetic testing: This may be used in cases where an inherited form of FTD is suspected, especially if there is a strong family history.

# Management

There is currently no cure for FTD; management focuses on alleviating symptoms and providing support. Strategies include:

- Behavioural interventions: Counselling, behaviour modification strategies, and caregiver support can help manage behavioural symptoms.
- Pharmacotherapy: Selective serotonin reuptake inhibitors (SSRIs) and antipsychotics can help control behavioural symptoms, though their use must be carefully balanced against side effects.
- There is no good evidence that the cholinesterase inhibitors or memantine help people with FTD, including Pick's disease. In some people they may make symptoms worse.
- Supportive care: Speech and language therapy, physiotherapy, and occupational therapy can help manage the impacts of the disease on daily functioning.
  
# NICE Guidelines

[Click here to see information on NICE
CKS on dementia](https://cks.nice.org.uk/topics/dementia/)
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Frontotemporal dementia
Topic
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Psychiatry
Condition
210
Dementias
UkmlaTopic
15
Mental health
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Individuals with Down's syndrome have an increased risk of early-onset Alzheimer's disease, often presenting with cognitive decline and behavioural changes.
A 51-year-old male presents to the GP with his sister as she has concerns regarding his memory. She says he is getting increasingly forgetful over the past 6 months, with periods of verbal aggression towards her. He is also less interested in socialising. He has a past medical history of Down's syndrome which was diagnose during childhood. On examination, his Mini-mental state examination is 21/30.

Which of the following is the most likely diagnosis?
a