Skip to main content

Table 1 Overview of clinical data and performed examinations in the six patients

From: Rapidly progressive dementia with thalamic degeneration and peculiar cortical prion protein immunoreactivity, but absence of proteinase K resistant PrP: a new disease entity?

Patient

Case 1

Case 2

Case 3

Case 4

Case 5

Case 6

Age at death

77

55

81

74

62

80

Duration of illness

12

12

2

7

9

7

Sex

F

F

M

F

M

F

Codon 129

MM

MM

MM

MV

NA

NA

Symptoms

      

Progressive dementia

+

+

+

+

+

+

Ataxia (Gait or Limb)

+

+

+

+

+

+

Parkinsonism

-

+

-

+

+

-

Myoclonus

+

+

+

+

-

-

Chorea

-

+

-

-

-

-

Pyramidal signs

+

+

-

-

-

-

Oculomotor disturbance

-

-

-

-

-

+

Cortical blindness

-

-

+

-

-

-

Clinical suspicion

CJD

CJD

CJD

CJD

DLB + ALC

WE/CJD

WHO Criteria (CJD)

Prob

Poss

Prob

Prob

*

-

Examinations

      

CSF 14-3-3

+

NA

+

+

NA

NA

MRI

No

No

Yes

Yes

Yes

Yes

CDI (PM)

Yes

Yes

NA

Yes

NA

NA

WB (PM)

Yes

Yes

NA

Yes

NA

NA

Neuropathology

      

BB stage

2

2

2

0

0

2

Thal Phase

No

1

1

No

No

1

Lewy body (B Stage)

No

No

No

No

No

No

phTDP-43

No

No

No

No

No

CA1 syn

Other

No

No

AG, MH

No

No

No

  1. *Retrospectively could be evaluated as “possible CJD”. Abbreviations: F female, M male, CJD Creutzfeldt-Jakob disease, DLB dementia with Lewy bodies, ALC alcoholic encephalopathy, WE Wernicke encephalopathy, AG argyrophilic grains, MH microhaemorrhages in the hypothalamus, NA not available, CA1-syn synaptic deposits in hippocampus CA1. Thal phase indicates the phases (1–5) of the deposition of beta-amyloid in the brain [28]. BB indicates Braak and Braak stages of neurofibrillary degeneration [29].