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Table 1 Clinical features of aFTLD-U and BIBD cases

From: Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U

Case Clinical diagnosis Additional clinical features Autopsy diagnosis Brain weight (g) Age of onset Age of death Gender Clinical synopsis
F1 bvFTD   aFTLD-U 1130 42 48 F Inappropriate behavior, loss of interests, obsessive compulsive behaviors, decreased language output, hyperorality. MMSE at presentation 24/30. EMG normal.
F2 bvFTD Parkinsonism and early MND aFTLD-U 1200 47 56 M Inappropriate affect with diminished social skills and aggression, decreased language output. Hyperorality and compulsive behaviors. Motor exam showed mild parkinsonism (increased tone and mild bradykinesia). MMSE at presentation 27/30. EMG with early motor unit dropout.
F3 bvFTD Parkinsonism and MND aFTLD-U 1241 46 51 M Change in personality with progressive apathy, loss of interests, disinhibition with inappropriate laughter, decreased and slow language output, obsessive compulsive tendencies. Motor exam initially showed mild rigidity and brisk deep tendon reflexes without weakness, atrophy or fasiculations. Later developed Hoffman reflexes and pathologically brisk deep tendon reflexes in all four extremities, atrophy of intrinsic hand muscles and tongue, and stiff/slow gait
B1 PMA variant of ALS-Plus Chorea BIBD 1229 65 72 F Progressive gait disorder, arm/hand weakness, muscle atrophy, dysarthria. Subsequent choreaform movements of head/neck with milder involvement of limbs/trunk. No cognitive dysfunction. EMG showed denervation and fibrillations. Died of neuromuscular respiratory failure.
B2 ALS-Plus Parkinsonism and FTD BIBD 1569 75 78 M Progressive weakness with parkinsonian gait, tremor of right hand, micrographia. Logopenic, poor oral trails, only producing three words beginning with the letter “f” in one minute, MMSE initially 28/30 with only one out of three words for delayed recall task. EMG showed denervation and fibrillations. Developed muscle atrophy, fasiculations. Died of neuromuscular respiratory failure.