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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.