Table 5 Autopsy Neuropathology
N | % | |||||
|---|---|---|---|---|---|---|
Study consented | 22 | (73%) | ||||
of whom deceased | 14 | (64%) | ||||
of which performed | 10 | (71%) | ||||
Summary of cases (10) | ||||||
Codon 129 | Suspected clinical diagnosis | Atypical features noted | Autopsy neuropathology findings | |||
ID 1 | MM | Senile dementia, ? Alzheimer’s disease | Fluent dysphagia (very early on), extreme behavioural disturbance | Alzheimer’s Disease- Neuropathological changes (AD-NC), neocortical Lewy body, severe cerebrovascular disease | ||
ID 2 | MV | Early-onset Alzheimer’s disease, mixed vascular | Seizures | AD-NC | ||
ID 3 | MM | Early-onset Alzheimer’s disease | Rapid deterioration, balance impaired | AD-NC, Lewy body dementia | ||
ID 4 | MV | Early-onset Alzheimer’s disease | Frontal features, slow progression | AD-NC | ||
ID 5 | MM | Early-onset Alzheimer’s or vascular dementia | Unclear | AD-NC, severe cerebral amyloid angiopathy, moderate non-amyloid small vessel disease | ||
ID 6 | MM | Early-onset frontal–temporal dementia | Unusual rate of progression | Non-specific neurodegenerative disordera | ||
ID 7 | MM | ? vascular dementia with behavioural and psychological symptoms of dementia (BPSD) | Considered previously to have a mild cognitive impairment, but evolved quickly to dementia with BPSD | Vascular dementia, microinfarcts, lacunar infarcts | ||
ID 8 | Not determined | Complex syndrome, parkinsonian features | ? Parkinsonism in dementia, hallucinations. Did not meet the criteria for Lewy body dementia, frontal–temporal dementia, vascular dementia with parkinsonism | Parkinson’s disease, neocortical Lewy body dementia | ||
ID 9 | MV | Progressive supranuclear palsy | Possible progressive supranuclear palsy, but insufficient evidence to fulfil diagnostic criteria | Neocortical Lewy body disease limbic predominant age-related TDP43 encephalopathy (stage 3) | ||
ID 10 | Not determined | Alzheimer’s disease, mixed vascular dementia | Mixed Alzheimer's or vascular dementia, rapid decline, parkinsonian features | Lewy body dementia | ||
Age at onset of symptoms | Mean = 65.4 years (56 – 79 years, std dev 7.1) | |||||
Interval between onset of symptoms and referral to the study | Mean = 8 years (2 – 13 years, std dev 3.8) | |||||
Duration of illness (from the onset of symptoms to death) | Mean = 9.9 years (3 – 16 years, std dev 4.4) | |||||