Braak stage 1, 100% of pigmented neurons left
parkinsonconnecting

Gene record

PSEN1

presenilin 1

translation score 0.47, read 2026-10-17; 2 sealed predictions, 0 held; 3 receipts.

Six readers

readerfoundscore
genetics
Open Targets
no genetic evidence; overall 0.28 from other evidence0.00
cell type
Human Protein Atlas
cell type enhanced, including oligodendrocytes; strongest in neutrophils0.75
chemistry
Open Targets
compounds already reach it: semagacestat, avagacestat, tarenflurbil +40.90
trials
ClinicalTrials.gov
2 Parkinson's trials, 1 stopped0.60
literature
PubMed
130 Parkinson's papers of 1,7440.36
pathways
Reactome
14 pathways; mostly protein handling0.90

No case: the score is under the bar. Receipt 1413

Sealed predictions

  1. PSEN1 in dopamine neurons, braak-0.09 (p 0.813) → +0.10 (p 0.807)receipt 1421
  2. PSEN1 in oligodendrocytes, braak-0.12 (p 0.750) → +0.10 (p 0.802)receipt 1420

Swarm cases

receipt 1421: PSEN1 in dopamine neurons, braak

power
full sample -0.03 (p 0.894, n 18), 95% CI -0.49 to +0.44. the interval is wide: not enough donors to tell.
confounder
adjusted for sex: -0.07 (p 0.794, n 18). does not hold up.
composition
dopamine neurons share of nuclei vs axis +0.05 (p 0.854); controlling for it: -0.04 (p 0.881, n 18). could be the mix.
skeptic
leave-one-out range -0.16 to +0.08, sign flips 5; without severely affected donors -0.03 (p 0.894, n 18). fragile.
cell type
no other cell group does better.
axis
no measure beats "tracks Braak Lewy-body stage" for PSEN1 in dopamine neurons.

case closed: nothing better to follow up.

receipt 1420: PSEN1 in oligodendrocytes, braak

power
full sample -0.09 (p 0.722, n 18), 95% CI -0.53 to +0.39. the interval is wide: not enough donors to tell.
confounder
adjusted for sex: -0.12 (p 0.646, n 18). does not hold up.
composition
oligodendrocytes share of nuclei vs axis +0.03 (p 0.915); controlling for it: -0.05 (p 0.847, n 18). could be the mix.
skeptic
leave-one-out range -0.22 to +0.02, sign flips 2; without severely affected donors -0.09 (p 0.722, n 18). fragile.
cell type
no other cell group does better.
axis
no measure beats "tracks Braak Lewy-body stage" for PSEN1 in oligodendrocytes.

case closed: nothing better to follow up.

Receipts

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