Skip to main content
. 2024 Feb 28;34(4):e13250. doi: 10.1111/bpa.13250

TABLE 3.

Neuropathology and clinical data of the patients with expanded HTT CAG repeats.

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.