TABLE 3.
Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | |
---|---|---|---|---|---|
Neuropathological diagnosis | PSP | PSP | CBD | CBD | AD |
Comorbid pathology |
Low AD‐NC (A1B1C0) Mild leptomeningeal CAA LBD (Braak 2) |
LBD (Braak 1) |
Intermediate AD‐NC (A3B2C3) Mild CAA AGD (Saito stage II) Moderate CVD |
Mild amyloid plaque pathology (Thal stage 1) AGD (Saito stage II) |
Moderate to severe CVD |
Age at death(years) | 78 | 73 | 75 | 75 | 96 |
Age at onset (years) | 66 | 65 | 70 | 69 | 84 |
Clinical diagnosis | PSP vs. CBS | PSP | AD | FTD | AD |
Main symptom | Gait disorder, supranuclear upward gaze palsy | Cognitive impairment, falls, non‐fluent aphasia, and vertical gaze palsy | Cognitive impairment, depression and irritability. | Cognitive impairment, with language and behavioural disorder | Cognitive impairment |
Other signs/symptoms | Dystonia, cognitive impairment, dysarthria, dysphagia | Dysarthria | Other behavioural symptoms (obsessions, perseverance, aggressiveness, disinhibition, hallucinations, and delusions). |
Aphasia and apraxia |
‐ |
Chorea | No | No | No | No | No |
Non‐motor symptoms | Depression, urinary incontinence | Multiple fainting episodes | ‐ | Behavioural impairment | ‐ |
Other medical features | Hypertension, cholecystectomy, depressive syndrome | No data | Diabetes, hypertension, dyslipidaemia. | No data | No data |
Neurological family history | Mother dementia | Paternal aunt dementia | Dementia, multiple sclerosis and Parkinson's disease | NO | No data |
Familial Huntington disease | No | No | No | No | No data |
Neuroradiology | MRI: few ischemic white matter lesions, no basal ganglia abnormalities, and age‐congruent global cortical atrophy | CT scan: bilateral frontal atrophy. |
MRI: Global cortical atrophy with frontotemporal predominance SPECT: right frontal hypoperfusion, mild bilateral perisylvian hypoperfusion |
No data | No data |
HTT gene CAG repeats | 27/40 | 17/37 | 19/36 | 20/36 | 17/36 |
Abbreviations: AD‐NC, Alzheimer's disease neuropathologic change; AGD, argyrophilic grain disease; CAA, cerebral amyloid angiopathy; CBD, corticobasal degeneration; CBS, corticobasal syndrome; CT, computed tomography; CVD, cerebrovascular disease; LBD, Lewy Body disease; MRI, magnetic resonance imaging; N/A, not available; PSP, progressive supranuclear palsy; SPECT, single photon emission computed tomography.