Table 1 Clinical data of patients with MAPT R406W mutation in a novel Swedish family

II-1

(Mut)

F

70

9D

Dementia NOS

N/A

N/A

N/A

N/A

N/A

Aggression and wandering behavior

N/A

N/A

III-1

N/A

F

57

2(d)

None

N/A

N/A

N/A

N/A

N/A

Social withdrawal^a

N/A

None

III-3

Mut

F

53

27D

AD

ε3/ε3

Prosopagnosia^a

N/A

Episodic

Reduced output, echolalia (26)

Shallow emotions (7), slight disinhibition, confabulation

LoI (8), anxiety, paranoid tendencies

Rigidity and bradykinesia (25), unexplained falls, dyskinesias in lower jaw

III-4

N/A

M

58

17D

AD

ε4/ε4

Memory impairment

Impaired

Episodic and semantic

Apraxia of speech

Disinhibition, aggression and sexual suggestions (9), DV, wandering behavior, confabulation

Severe LoI

None

III-5

(Mut)

M

63

14D

N/A

N/A

N/A

N/A

N/A

N/A

Dyscalculia, dysfunctional at household chores, mild behavioral symptoms (11) wandering behavior (11–14)

Severe LoI, anxiety (14)

None

III-6

Mut

F

50

26D

AD

ε3/ε3

Dyscalculia, social withdrawal, lack of initiative

Mild Q, impaired (24)

Learning difficulties

Reduced spontaneous output

Emotional lability, DV (1), mood changes, perseverations, and confabulation (6), disinhibition, aggression and rude language (18), wandering behavior (24)

LoI, anxiety

Bradykinesia, mild rigidity and dysdiadochokinesia (24), slight tremor^a, dyspraxia of left hand, dysphagia^a

IV-9

Mut

M

51

12(a)

MCI

N/A

Irritability^a, visuospatial difficulties^a, short-term memory loss

N/A

Short-term memory loss

Dyslexia and dysnomia (5)

Confabulation (5), irritability

Mild LoI, anxiety, emotional lability (5)

None

IV-16

Mut

F

52

6(a)

None

N/A

Anxiety, memory impairment

Q (3)

Episodic (3)

No

Disinhibition

Mild LoI

None