Table 2 Group-level results of AIRAscore-reported brain area volume percentiles of SPG4 patients and matched healthy controls.

From: Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

Specified area

Percentiles

Mean (SD) or median$ {IQR}

p-values

(B&H)

Effect size

\(r=\left|\frac{Z}{\sqrt{n}}\right|\)

Healthy controls (n = 24)

SPG4 patients (n = 24)

Total brain$

87.45$ {25.7}

59.85$ {48.1}

0.001

0.788

cerebellum$

81.6$ {31.5}

80.2$ {37.0}

0.794

0.075

Gray matter (GM)

71.31 (20.70)

59.81 (20.45)

0.112

0.404

GM cerebrum

67.97 (20.80)

59.20 (19.45)

0.225

0.349

GM cerebellum$

75.3$ {32.04}

83.78$ {30.48}

0.848

0.027

White matter (WM)$

78.80$ {31.6}

48.0$ {50.70}

 < 0.001

0.845

Infratentorial

Midbrain$

74.2$ {24.6}

32.7$ {43.1}

0.001

0.792

Pons$

67.4$ {42.6}

30.95$ {55.1}

0.020

0.537

Midbrain/pons ratio$

57.9$ {29.2}

65.50$ {63.8}

0.446

0.189

Lobe

Frontal

63.88 (23.46)

54.71 (23.92)

0.272

0.305

Parietal

55.18 (23.33)

47.64 (27.30)

0.419

0.250

Temporal

59.17 (25.18)

49.13 (21.25)

0.225

0.334

Occipital

46.48 (25.64)

47.06 (25.59)

0.848

0.002

Insula

38.43 (25.17)

39.49 (21.25)

0.848

0.050

Limbic system

Hippocampus (bilat.)

63.0 (22.01)

42.13$ {28.40}

0.002

0.667

GM cingulate gyrus

54.44 (21.33)

37.41 (20.96)

0.020

0.532

Ventricular system

Lateral ventricles

48.31 (17.44)

67.58 (15.47)

0.001

0.734

Third ventricle$

38.2$ {36.2}

80.2$ {31.2}

0.002

0.705

Fourth ventricle

40.15 (21.95)

53.2 (20.83)

0.085

0.442

  1. Presented are percentiles of brain volumes as reported by AIRAscore and age- and gender matched healthy controls (n = 24 each). Gaussian distribution of parameters was assessed using the Shapiro–Wilk-Test. Gaussian distributed data (gray matter, GM cerebrum, lateral ventricles, fourth ventricle, all lobes, hippocampus, and GM cingulate gyrus) is presented as mean (standard deviation) and non-gaussian distributed data$ as median$ {interquartile range}. Gaussian distributed variables were compared by a two-sided t-test and non-Gaussian distributed variables by the Mann–Whitney-U test. Reported p-values are corrected after Benjamini&Hochberg (B&H) with p-values < 0.05 reported in bold. Effect size values r > 0.1 < 0.3 were considered as small, r > 0.3 < 0.5 as medium and r > 0.5 as large, all large effect sizes are reported in bold.
  2. $ non-gaussian distributed variable, bilat.: bilateral; GM: gray matter; IQR: interquartile range; SD: standard deviation.
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