Skip to main content

Table 2 Clinical, neuropathological, and genetic findings

From: Clinical, neuropathological, and molecular characteristics of rapidly progressive dementia with Lewy bodies: a distinct clinicopathological entity?

Case

N.

Sex

Age

Clinical features

LBD

stage

LB score

Aβ/

NFT stage

Ather./ SVD/VBI/

CAA

Other NP lesions

ApoE

Genetic variants

#1

F

81

Par

Neoc.

61

2/2

no/no/no/no

no

3/4

N/A

#2

F

82

VH, Par, Myo, Pyr

Neoc.

56

4/4

no/no/no/no

no

3/3

N/A

#3

M

65

Flu, Myo, AM, Psy, DO

Neoc.

66

5/5

mild/no/no/no

no

3/3

EIF4G1: p.Ala13Pro + p.Ser15ProfsX39 + p.Gly17ThrfsX37 + p.Leu18Pro

#4

M

84

-

Neoc.

59

5/4

mod./no/no/no

LATE

3/4

N/A

#5

F

80

Myo, Pyr, AM, Psy

Neoc.

54

4/3

mod./no/no/no

no

N/A

N/A

#6

M

80

Par, Psy, DO

Neoc.

52

5/4

mod./no/no/no

no

3/3

N/A

#7

F

76

Flu, Par

Neoc.

39

5/4

mod./yes/yes/

T1 severe

HS

2/3

N/A

#8

M

72

Flu, VH, Par, Psy, DO, Seiz

Neoc.

52

0/1

mod./no/no/no

PART

3/3

N/A

#9

F

62

Flu, VH, Par, Pyr, Psy

Neoc.

52

0/0

mild/no/no/no

no

N/A

VPS13C:.Pro933Leu

GRN: p.Val90Met

#10

M

73

AM, Psy, DO, Seiz

Limbic

34

3/2

mod./no/no/no

no

3/3

SYNJ1: p.Thr842Asn

#11

M

77

Par, Myo, AM, Psy

Limbic

37

5/4

mod./no/no/no

no

3/3

N/A

#12

F

72

Flu, Psy, DO

Neoc.

38

4/5

mod./yes/no/

T2 mild

no

3/4

-

#13

M

70

Flu, Myo, Psy, DO

Neoc.

49

4/4

mod./yes/no/

T1 mod.

no

3/3

N/A

#14

M

77

Par, Myo, Psy, Seiz

Neoc.

41

2/3

mod./no/no/no

no

3/4

N/A

#15

M

63

Flu, Myo, Psy

Neoc.

45

5/6

mod./no/no/

T2 mod.

HS

3/4

-

#16

M

73

VH, Par, Myo, Psy

Neoc.

45

4/3

mod./no/no/

T2 mod.

no

3/4

NOTCH3: p.Glu813Lys

#17

M

83

Psy, DO

Neoc.

56

4/3

mod./no/no/

T2 mod.

no

N/A

N/A

#18

M

57

VH, RBD, Psy, DO

Neoc.

52

0/1

mild/no/no/no

PART

N/A

N/A

#19

M

72

VH, Par, Myo, AM, Psy, DO

Limbic

37

5/6

mod./no/no/

T1 mod.

no

3/4

MYORG: p.Leu544Gln

#20

F

74

Psy, Seiz

Neoc.

47

5/4

mod./yes/no/

no

no

N/A

N/A

#21

M

70

Par, Psy, DO

Neoc.

44

5/6

mod./yes/no/

no

no

N/A

N/A

#22

F

72

Flu, VH

Neoc.

53

5/3

mod./no/no/no

no

3/3

GBA: p.Lys196Gln

  1. Age at onset is expressed in years. Aβ plaques and NFT are staged according to current criteria [16]
  2. Abbreviations AD, Alzheimer’s disease; AM, akinetic mutism; Ather, atherosclerosis; CAA, cerebral amyloid angiopathy; DO, delirium onset; Flu, fluctuations; HS, hippocampal sclerosis; int., intermediate; LATE, limbic-predominant age-related TDP-43 encephalopathy; LBD, Lewy body disease; mod, moderate; Myo, myoclonus; N/A, not available; NC, neuropathological changes; Neoc., neocortical; Par, parkinsonism; PART, primary age-related tauopathy; Psy, neuropsychiatric symptoms; Pyr, pyramidal signs; RBD, REM sleep behaviour disorder; Seiz, seizures; SVD, small vessel disease; T1/2, type 1/2; VH, visual hallucinations; VBI, vascular brain injury