Table 1 Overview of the analyzed overall and subproject cohorts (panel A) and the demographic and clinical metadata (panel B).

From: Application of IVDr NMR spectroscopy to stratify Parkinson’s disease with absolute quantitation of blood serum metabolites and lipoproteins

A

Subproject Cohort 1

(2021)

Subproject Cohort 2

(2023)

Subproject Cohort 3

(2023)

Total Cohort

(2021–2023)

(PD_GBA) n = 18;

18 GBA severe

(PD_GBA) n = 6;

1 GBA mild;

3 GBA risk;

1 GBA severe;

1 GBA VUS

(PD_GBA) n = 38;

12 GBA mild;

18 GBA risk;

4 GBA severe;

4 GBA VUS

(PD_GBA) n = 62;

13 GBA mild;

21 GBA risk;

23 GBA severe;

5 GBA VUS

(Control) n = 13

(Control) n = 16

–

(Control) n = 29

(Control_F) n = 8; female surplus group

(Control_F) n = 4; female surplus group

–

(Control_F) n = 12;

female surplus group

(Mitochon. dis.) n = 5; 1 Kearns-Sayre Syndrome; 1 PD & mitochondriopathy; 1 schizophrenia & mitochondriopathy; 1 sarcoidosis

–

–

(Mitochon. dis.) n = 5

–

(DLB) n = 4

–

(DLB) n = 4

(Sporadic PD early) n = 20

(Sporadic PD early) n = 36

(Sporadic PD early) n = 42

(Sporadic PD early) n = 98

(Sporadic PD late) n = 18

(Sporadic PD late) n = 10

(Sporadic PD late) n = 15

(Sporadic PD late) n = 43

(PD rec) n = 17;

1 PINK1 biA;

1 PINK1 monoA;

4 PRKN biA;

11 PRKN monoA

–

(PD rec) n = 3;

3 PD PRKN monoA

(PD rec) n = 20

(PD double mutation carrier) n = 4;

2 PD GBA PRKN monoA;

1 PD GBA PARK7 monoA;

1 PD GBA LRRK2

(PD double mutation carrier) n = 2;

2 PD GBA LRRK2

(PD double mutation carrier) n = 5;

1 PD GBA PARK7;

1 PD GBA LRRK2;

3 PD GBA PRKN biA

(PD double mutation carrier) n = 11

(PD LRRK2) n = 1

(PD LRRK2) n = 1

(PD LRRK2) n = 1

(PD LRRK2) n = 3

B

Demographic data (Total)

Clinical data (Total)

Sex (women)

PD_GBA

Control (matched)

Sporadic PD early

Sporadic PD late

PD rec

Women (number; %)

27; 43.5%

14; 48.3%

36; 36.7%

17; 39.5%

7; 35.0%

Age PD onset

(y.o., mean ± SD)

PD_GBA

Control

Sporadic PD early

Sporadic PD late

PD rec

Age PD onset (years)

52 ± 9

N/A

57 ± 11

56 ± 7

47.5 ± 12

Age (y.o., mean ± SD)

PD_GBA

Control (matched)

Sporadic PD early

Sporadic PD late

PD rec

Age (years)

59 ± 9

62 ± 13

59 ± 11

68 ± 7

59 ± 11

PD disease duration

(years, mean ± SD)

PD_GBA

Control

Sporadic PD early

Sporadic PD late

PD rec

PD disease duration (years)

7.5 ± 5

0 ± 0

3 ± 1

11 ± 3

12 ± 10

  1. PD_GBA – PD diagnosed patients (samples) with confirmed mutations in the gene for glucocerebrosidase (GBA); VUS – variants of unknown significance; Control – non-parkinsonian controls; Control_F – excluded subset of female participants due to age and sex matching of other groups of the study; Sporadic PD early – patients (samples) screened with diagnosed PD prior 5 or less years since the age of onset; Sporadic PD late – patients (samples) screened with diagnosed PD prior 6 or more years since the age of onset; PD rec – confirmed recessive forms of PD; A – allelic; DLB – dementia with Lewy Bodies. The means were calculated as averages. SD – standard deviation (st dev). n – number of samples.
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