What is the pattern of inheritance in Huntington’s disease?
Autosomal dominant
Histological findings in Lewy Body Dementia
Alpha-synuclein formed into Lewy Bodies
A patient presents with generalised cognitive deterioration (language, memory, visuospatial skills…) and personality changes.
What is the likely Dx?
Alzheimer’s Disease
A 26 year old patient presents with depression, a Hx of hallucinations and choreiform movements. His mother has been recently been diagnosed with a neurological condition and also experienced uncontrolled jerky movements of her limbs.
What is his likely Dx?
Huntington’s Disease
What aggregates to form Lewy Bodies?
Mutated Alpha-synuclein. The mutation changes soluble α-synuclein proteins to insoluble and makes them prone to aggregation.
A patient presents with a Hx of delusions, new symptoms include: confusion, declining cognition, parkinsonian movements
What is their likely Dx?
Dementia with Lewy bodies.
Could also be Parkinson’s disease but the earlier Hx of delusions suggests Lewy Body Dementia.
What is Creutzfeldt Jakob Disease?
A rare but most prevalent form of Prion Disease that is often mistaken for rapid onset dementia.
A patient presents with sudden onset of memory loss, personality changes, hallucinations, myoclonus, ataxia, speech impairment, and paranoia.
What is the likely Dx?
Cruetzfeldt Jakob Disease.
A patient presents with increasing muscle spasticity, bradykinesia, and postural instability.
What is the likely Dx?
Parkinson’s Disease
- Not all signs need to be present for Dx
Diagnosis of clinically established PD requires:
The absence of absolute exclusion criteria + At least two supportive criteria, and No red flags
What is the life expectancy of a patient with Creutzfeldt Jakob Disease?
1 year
A patient presents with the following symptoms:
Behaviour changes, MRI shows atrophy of the Frontal region of the brain. What is their likely Dx?
Frontotemporal lobe dementia
What are the common causes of vascular dementia?
- Advanced age
- Hypertension
- Diabetes
- Elevated total cholesterol levels
- Lower physical activity
- Low or high body mass index
- Smoking
- Coronary artery disease
- Atrial fibrillation
What is the most common form of dementia?
Alzheimer’s Disease
To satisfy the criteria to diagnose a patient with dementia, they must have at least two of the following:
- Impaired ability to acquire and remember new information
- Impaired reasoning and handling of complex tasks; poor judgement
- Impaired visuospatial abilities
- Impaired language functions (speaking, reading, writing)
- Changes in personality, behaviour or bearing (comportment)
Histological findings in Frontotemporal lobe dementia
Most commonly - Tau aggregates are found, however, there are other variants in which TDP-43 or FUS form aggregates
A patient presents with hallucinations and delusions, rapid eye movements and sleep disturbance. What is the patient’s likely diagnosis?
Dementia with Lewy bodies
What is the pathogenesis of Huntington’s Disease?
Increased expression of Wild-type huntingtin (HTT) alleles = increased # of CAG repeats
The generally accepted threshold for developing HD is 36 repeats, but there is variable penetrance for expression of the HD phenotype with 36 to 39 CAG repeats.
Full penetrance occurs with ≥40 repeats.
Histological findings in Alzheimer’s Disease
TAU found as neurofibrillary tangles around Beta-amyloid plaques
What is the rate of CJD from Bovine Spongiform Encephalopathy?
<1%
Sporadic (spontaneous misfolding) – 85% of all cases
Familial – nearly 15%
Acquired (contamination) – <1%
