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. |