Summary GBA protein & activity (continued), Summary table: GBA-PD patients, and Read the Paper (A) GBA Pathway Biomarkers
| analyte / sample | citation | GBA-PD+ Direction | n | GBA+PD+ Direction | n |
|---|---|---|---|---|---|
| GlcSph / Brain | (Gundner et al., 2019) | ? 안 통계유의 (10-30% cortex, putamen, SN) | ~30 | ? (cortex 에서만 유의 (↑ 1.6x), putamen, SN 은 안 통계유의) | 10 |
| GlcSph / Brain | (Gegg et al., 2015) putamen | = | 5 | = (0.17 vs 0.14) | 5 |
| GlcSph / Brain | (Leyns, 2022 #2182) | 시간없어 확인 안 했음. | ↑ (57%) (ie we need ↓ 36% ie 157→100) | 72 (16 PD, 56 PDD, note: ... ) | |
| GlcSph / Brain | (Huebecker et al., 2019) | SN: ↑ (~2x) | 7 | non-significant increase to ~165% in the cohort of patients aged 70e79 years and a statistically significant increase to ~215% in patients aged >80, | 3 |
| GlcSph / Brain | (Rocha et al., 2015) | ↑ (hippocampus, cerebellum), = (cortex) | 23 | ||
| GlcSph / CSF | Venglustat p2 (MOVES-D) | Not available | |||
| GlcSph / plasma | (Guedes et al., 2017) | 35 | Slightly ↑? (실제는 galactosylsphingosine 과의 sum) | 29 | |
| GlcSph / plasma | (Surface, 2022 #2573) only N370S, Spot study at Columbia univ (Roy) | = | 20 | ↑ (1.7x, d=1.7) | 20 |
| GlcSph / plasma | (Chan et al., 2017) | = | 150 |
Summary table: GBA-PD patients
| category | matrix | literature | Altered in GBA-PD (vs HC)? | N of GBA-PD patients |
|---|---|---|---|---|
| GBA protein | Brain | (Gundner et al. 2019), PMID 30236861 | Reduced | |
| GBA protein | Brain | (Gegg et al. 2012), PMID 23034917 | Reduced | |
| GBA protein | CSF | (Mullin et al. 2020), PMID 31930374) | Reduced | 8 |
| GBA activity | Brain | (Leyns et al. 2023), PMID 37169750 | Reduced (by 39%, cingulate/frontal/putamen/cerebellum combined) | 72 |
| GBA activity | Brain | (Gundner et al. 2019), PMID 30236861) | Reduced | 10 |
| GBA activity | Brain | (Gegg et al. 2012), PMID 23034917) | Reduced | 14 |
| GBA activity | Brain | (Nelson et al. 2018), PMID 29196214) | Reduced | 2 |
| GBA activity | Brain | (Huebecker et al. 2019), PMID 31703585) | Reduced | 3 |
| GBA activity | CSF | (Schondorf et al. 2014), PMID 24905578) | Reduced | 15 |
| GBA activity | CSF | (Parnetti et al. 2017), PMID 28843015) | Reduced | 10 |
| GBA activity | CSF | (Oftedal et al. 2023), PMID 36253102) | Reduced | 12 |
| GBA activity | DBS | (Alcalay et al. 2015), PMID 26117366, MS/MS | Reduced | 81 |
| GBA activity | DBS | (Omer et al. 2022), PMID 34550621 | Reduced | 102 |
| GBA activity | Blood | (Lerche et al. 2021), PMID 33547828 PPMI | Reduced | 31 |
| GBA activity | Monocyte | (Atashrazm et al. 2018), PMID 30337601 | Reduced | |
| GBA activity | PBMC | (Papagiannakis et al. 2015), PMID 26769460 | Reduced | |
| GBA activity | Blood | (Ortega et al. 2016), PMID 26857292 | Reduced | 15 |
| GlcCer | Brain | (Leyns et al. 2023), PMID 37169750 | Increased (by 30%, cingulate/frontal/putamen/cerebellum combined) | 72 |
| GlcCer | Brain | (Gegg et al. 2015), PMID 26096906) | Not altered (putamen) | 5 |
| GlcCer | Brain | (Kurzawa-Akanbi et al. 2021), PMID 34514546) | Not altered (Frontal and cingulate cortex) | 21 |
| GlcCer | Brain | (Huebecker et al. 2019), PMID 31703585 | Not conclusive | 3 |
| GlcCer | CSF | (Huh et al. 2021), PMID 34811369, PPMI | Increased | 44 |
| GlcCer | CSF | (Lerche et al. 2021), PMID 33547828) PPMI | Increased | 31 |
| GlcCer | plasma | (Guedes et al. 2017), PMID 28890071) | Increased (note: combined with other lipids) | 29 |
| GlcCer | plasma | (Surface et al. 2022), PMID 34741486) Spot study at Columbia univ | Not altered | ~20 |
| GlcSph | Brain | (Leyns et al. 2023), PMID 37169750 | Increased (by 57%, cingulate/frontal/putamen/cerebellum combined) | 72 |
| GlcSph | Brain | (Gundner et al. 2019), PMID 30236861 | Increased in cortex. Not altered in putamen and SN | 10 |
| GlcSph | Brain | (Gegg et al. 2015), PMID 26096906 | Not altered (putamen) | 5 |
| GlcSph | Brain | (Huebecker et al. 2019), PMID 31703585 | non-significant increase | 3 |
| GlcSph | plasma | (Guedes et al. 2017), PMID 28890071 | Slightly increased (note: combined with galactosylsphingosine) | 29 |
| GlcSph | Plasma | (Surface et al. 2022), PMID 34741486 Spot study at Columbia univ | Increased | 20 |
Read the Paper (A) (GBA Pathway Biomarkers for Genetic and Idiopathic PD)
| Study | Groups | Brain Regions | GCase Activity – GBA1-PD | GCase Activity – iPD | Lipid Levels – GlcCer | Lipid Levels – GlcSph | Path. |
|---|---|---|---|---|---|---|---|
| Gegg et al. (2012) | HC: 6-10 iPD: 12-14 GBA1-PD: 9-14 | Cerebellum Frontal Putamen Amygdala Substantia nigra | ↓ / – (per region) | ↓ / – (per region) | ND | ND | ND |
| Murphy et al. (2014) | HC: 10 iPD: 19 | Cingulate Occipital | ND | ↓ / – (per region) | ND | ND | α-Syn Biochemistry |
| Gegg et al. (2015) | HC: 5-7 iPD: 7-13 GBA1-PD: 5-14 | Cerebellum Putamen | ND | ND | – (per region) | ND | ND |
| Rocha et al. (2015) | HC: 29 iPD: 25 | Cerebellum Frontal Putamen Hippocampus Substantia nigra | ND | ↓ (multiple regions) | ND | ↑ (lower rows) *Different by age | ND |
| Boutin et al. (2016) | HC: 12 iPD: 32 | Temporal | ND | ND | – (per region) | ND | ND |
| Huebecker et al. (2019) | HC: 10-18 iPD: 7-14 GBA1-PD: 3-4 | Substantia nigra | – / ↓ | – / ↓ | ↑ | ↑ *Different by age | ND |
| Gundner et al. (2019) | HC: 15 iPD: 20 GBA1-PD: 10 | Frontal Putamen Substantia nigra | ND / – (per region) | ND / – (per region) | ND | ↑ (one region) / – (others) | α-Syn Biochemistry |
| Kurzawa-Akanbi et al. (2021) | HC: 16 GBA1-HC: 10 iPD: 17 GBA1-PD: 21 | Frontal Cingulate | ND | ND | – (per region) | ND | ND |
| Blumenreich et al. (2022) | HC: 21 iPD: 21 GBA1-PD: 21 | Middle Temporal Cingulate Striatum Occipital | ND | ND | ↑ (one region) / – (others) | ND | ND |
Uncertain Spans
| location | transcription | uncertainty |
|---|---|---|
| top continuation | the visible analyte/sample/citation cells continue from 20240722_182136 and column meanings (GBA-PD+/GBA+PD+ Direction, n) are inherited from that capture’s headers, which are not re-shown at the top of this photo. | Column headers above the visible rows are above the photo crop. |
| GlcSph / Brain Leyns row | 72 (16 PD, 56 PDD, note: ... ) | The right edge is clipped and the parenthetical note continues outside the captured area. |
| GlcSph / Brain Huebecker row | ~165%, 70e79 years, ~215%, aged >80 | dense small text; OCR and image agree broadly but typography/spacing are uncertain. |
| Summary GBA-PD-patients table | trailing ) after several PMIDs | Several citations end with ) whose pairing is unclear (e.g. PMID 30236861), PMID 23034917)); preserved as visible. |
| Read-the-Paper table / GCase activity cells | ↓, – (dash), ND placement | Each cell can contain multiple region-specific symbols stacked vertically; transcribed as a per-region summary because exact region-to-symbol pairing is small in the visible crop. |
| Read-the-Paper table / Lipid levels cells | ↑, ↓, – (dash), ND, and the *Different by age annotation under Rocha and Huebecker rows | Symbols and annotations overlap region rows; transcribed as a summary list per cell. |
| Read-the-Paper table / Path column | α-Syn Biochemistry, ND | Two entries appear with varied capitalization in the source (a-Syn vs α-Syn); transcribed with the visible glyph. |