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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)