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Record W4390198735 · doi:10.1002/alz.082025

Early‐onset Lewy body dementia associated with PRKN gene mutation

2023· article· en· W4390198735 on OpenAlexaboutno aff
Neeraj Kumar Singh

Bibliographic record

VenueAlzheimer s & Dementia · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsnot available
Fundersnot available
KeywordsLewy bodyDementiaMedicineDementia with Lewy bodiesGenetic testingAnxietyNeuroimagingNeurological examinationPsychiatryDiseasePathologyPsychologyPediatricsInternal medicine

Abstract

fetched live from OpenAlex

Abstract Background A 42‐year‐old woman presented with a 1‐year history of head tremors, visual hallucinations, and concentration difficulty. On initial evaluation by a neurologist, she was told that her symptoms were due to anxiety, and no further workup was done. After seeking a second opinion, further workup was pursued. Method The patient underwent cognitive testing, with Montreal Cognitive Assessment revealing a normal score of 29/30. MRI Brain revealed a midline frontal meningioma without mass effect. Routine EEG revealed no evidence of seizure tendency. Due to persistent head tremors and visual hallucinations, further testing was considered. Result PET‐FDG CT Brain revealed bilateral parietotemporal and occipital hypometabolism with preserved cingulate gyrus metabolism, consistent with Lewy body dementia. Another PET‐FDG MRI Brain performed 13 months later revealed a similar hypometabolism pattern. Genetic testing revealed a heterozygous mutation for the PRKN gene. Conclusion In this case, a patient showing clinical signs of a potential neurodegenerative disorder was initially dismissed as having anxiety, but further workup with appropriate neurological studies revealed a genetic basis for early‐onset Lewy body dementia. This case demonstrates a unique association with the PRKN gene mutation with Lewy body dementia even though it is typically associated with Parkinson’s disease. This case also highlights the underrepresentation of young patients with neurodegenerative diseases, which is reinforced by biases against pursuing appropriate workup for young patients showing relevant clinical signs.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.000
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.018
GPT teacher head0.252
Teacher spread0.234 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2023
Admission routes1
Has abstractyes

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