Table 1

Characteristics of patients with the ATM c.3576G>A and c.8147T>C mutations, compared with patients with classic A-T

Classic A-T (n=51)c.3576G>A (n=35)c.8147T>C (n-=24)
FrequencyFrequencyP value or 95% CIFrequencyP value or 95% CI
Number of patients
 Dutch cohort5145
 Italian cohort0200
 German cohort052
 French cohort0211
 Compound heterozygous381524
Median follow-up duration (years) 14270.001‡360.001‡
Range 4–54Range 2–56Range 2–78
Estimated survival (years) 1846<0.001§<0.001§
Number of deaths*30/519/330.007†2/ 24<0.001†
Cause of death known*2792
 Respiratory failure950.267†01.000†
Median age at time of death (years) 15330.098§0.870§
Range 4–54Range 13– 50Range 7–47
HR for deathRefHR 0.250.12 0.52**HR 0.070.02- 0.29**
Onset of first neurological symptoms
Number of patients*50/5131/320.153†21/240.094†
Median age at time of onset of neurological symptoms (months) 17240.001§24<0.001§
Range 4–60Range 8–156Range 6–384
HR for onsetrefHR 0.480.30–0.78**HR 0.320.17- 0.61**
Wheelchair use / loss of autonomous walking
Number of patients*31/4018/180.045†7/170.013†
Median age at time of wheelchair use/loss of autonomous walking
Range 7–18Range 4–23Range 9–63
HR for wheelchair use/loss of autonomous walkingrefHR 0.750.39–1.46**HR 0.030.00- 0.21**
Number of patients20/517/350.097†6/240.301†
Median age at diagnosis of malignancy (years) 1216§0.807§320.120§
Range 4–52Range 6–33Range 7–42
HR for malignancyRefHR 0.330.14–0.78**HR 0.290.11- 0.73**
Number of patients46/4932/341.000†8/22<0.001†
Respiratory disease*
(including recurrent infections)
Number of patients42/4910/27<0.001†1/21<0.001†
Immunodeficiency *
Number of patients41/506/32<0.001†3/21<0.001†
Increased serum AFP level *
Number of patients45/4623/241.000†19/191.000†
Median AFP level (µg/L)24052<0.001‡1720.029‡
Range 3–660Range 10–145Range 29–400
Expression of ATM protein *
Number of patients12/3013/190.079†11/110.001†
ATM kinase activity *
Number of patients0/303/90.009†11/11<0.001†
  • *For some patients, values were missing: those patients were excluded from statistical analysis.

  • †Fisher’s exact test.

  • ‡Mann-Whitney-Wilcoxon.

  • §Log-rank test.

  • ¶Could not be calculated because of small numbers of deceased patients.

  • **Cox regression analysis.

  • A-T, ataxia telangiectasia; AFP, alpha-fetoprotein; ATM, ataxia-telangiectasia mutated.