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Table 1 Summary of clinical and biomarker data. Evaluation of the proband case and the affected sibling conducted over the last year (current age)

From: α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease

 

Case I.3 (proband, woman)

Case I.1 (brother)

Age at onset

58 years

68 years

Symptoms at onset

1st delusions, 2nd memory

Memory

Current age

66 years

76 years

Neuropsychology

 MMSE

16/30

23/30

 Verbal fluency (1 min)

animals: 2; letter S: 2

animals: 7; letter S: 4

 Boston Naming (15 items)

3/15 + 5 with phonetic clues

6/15 + 5 with phonetic clues

 HVLT (12 items)

learning trials: 0-0-0

free recall: 0, cued: 0

recognition: 0

learning trials: 0-1-2

free recall: 0, cued: 0

recognition: 0

 Clock Test

order 4/10, copy 6/10

order 2/10, copy 8/10

Functional status

GDS 5/CDR 2

GDS 3–4/CDR 1

CSF biomarkers (pg/ml) *

 Aβ42

635

708

 Aβ 40

11,391

14,403

 Ratio Aβ42/40

0.056

0.049

 T-tau

960

1037

 P-tau

176

184

 Erlangen score

4 (probable AD)

4 (probable AD)

 ADAM10 55 kDa **

- 39%

- 69%

 ADAM10 50 kDa **

- 34%

- 54%

 ADAM10 80 kDa **

- 47%

- 26%

 sAPPα 110 kDa#

- 73%

- 66%

 sAPPα 120 kDa#

- 70%

- 63%

APOE genotype

3/3

2/3

Pattern of atrophy

Frontal + hippocampal

Diffuse cortical + hippocampal

  1. CDR Clinical Dementia Rating scale (0 to 3), GDS Global Deterioration Scale (0 to 7), MMSE Mini-Mental State Examination, HVLT Hopkins Verbal Learning Test
  2. *Cut-off points to consider the values consistent with AD are as follows: Aβ42 < 770 pg/ml; T-tau > 440 pg/ml; P-tau > 58 pg/ml; ratio Aβ42/40 < 0.068
  3. ** % Reduction of ADAM10 isoforms versus the mean for controls (shown in Fig. 2)
  4. #  % Reduction of sAPPα isoforms, compared to controls (Fig. 3)