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Table 4 Correlations between the three genotype/subcellular localisation subgroups and biochemical and clinical test results

From: Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Analysis/clinical test

N

Subgr. 1, mean

Subgr. 2, mean

Subgr. 3, mean

Min.

Max.

Total, mean

SD

p-value Pairwise comparison*

CSF-oligo (μmol/L)

35/35

11.5 ± 2.3

11.9 ± 3.2

7.1 ± 2.0

4.0

19

10.7

3.4

H0 3 = 2: p = 0.001, H0 3 = 1: p = 0.011

H0 2 = 1: p = 1.000

Cognitive test (VR battery) (years)

35/35

5.8 ± 1.7

5.3 ± 1.5

7.0 ± 0.9

3.0

9.0

5.8

1.6

H0 3 = 2: p = 0.049, H0 3 = 1: p = 0.344,

H0 2 = 1: p = 1.000

Cognitive test (Memory Screening) (y)

26/26

6.9 ± 1.9

5.4 ± 2.0

8.8 ± 1.2

2.3

10.2

6.5

2.3

H0 3 = 2: p = 0.02, H0 3 = 1: p = 0.215,

H0 2 = 1: p = 0.836

FVC% (%)

54/66*

62.3 ± 20.7

77.5 ± 19 %

90.7 ± 22.7

30

140

75.2

22.7

H0 3 = 2: p = 0.296, H0 3 = 1: p = 0.003,

H0 2 = 1: p = 0.042

BOT-2 (Coor.) (points)

35/35

16.3 ± 10.1

11.3 ± 10.8

22.5 ± 7.6

1

33

15

10.8

H0 3 = 2:p = 0.047, H0 3 = 1: p = 0.713

H0 2 = 1: p = 0.773

BOT-2 (Balance) (points)

35/35

7.6 ± 6.2

8.4 ± 6.1

14.8 ± 7.9

1

26

9.7

7.0

H0 3 = 2: p = 0.033, H0 3 = 1: p = 0.06,

H0 2 = 1:p = 1.00

  1. Significant correlations between the three genotype/subcellular localisation subgroups and CSF-oligosaccharides (CSF-oligo), Cognitive test (VR battery) (=Total equivalent age for the Visual function and reasoning battery), Cognitive test (Memory Screening) (Total equivalent age for the Memory Screening), Forced Vital Capacity (FVC%), BOT-2 (Upper limb coordination) (Coor.) and BOT-2 (Balance)
  2. N = number, min. = minimum, Max. = Maximum, SD = standard deviation, * H0 3 = 2/ H0 3 = 1/ H0 2 = 1: Refers to the null hypothesis (H0) for the comparison of subgroup 3 versus subgroup 2 / subgroup 3 versus subgroup 1 / subgroup 2 versus subgroup 1. p < 0.05 rejects the H0
  3. *54/66 were able to perform a spirometry