Motor Neuron Disease-Frontotemporal Dementia Spectrum Disorder: A Different Phenotype Related With a Novel <i>TBK1</i> Gene Variant
Bibliographic record
Abstract
The association of frontotemporal dementia (FTD) and motor neuron disease (MND) is a clinical continuum with genetic and neuropathological overlap. Cohort analysis has been broadening our phenotypic and genotypic knowledge on amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorders. A 57-year-old woman presented with a progressive speech disturbance followed by the development of progressive upper MND in the next 2 years. Rapid progression of disease included anarthria, severe dysphagia requiring a gastrostomy tube and a tetrapyramidal syndrome without lower motor neuron signs. Death occurred within 4 years. Complementary investigation showed a left mesial temporal and frontal lobe atrophy, as well as a corticospinal tract hyperintensity on magnetic resonance imaging (MRI). Hypometabolism in the left parietal-temporal and frontal lobes was also evident in FDG-PET. The association of progressive apraxia of speech with upper motor neuron signs in our patient prompted genetic testing and the finding of a novel TBK1 gene variant. Genetic testing should be considered in patients presenting with FTD, particularly with a positive family history or secondarily associated with an MND. Population-based studies are needed to clarify the prevalence and clinical phenotypes of TBK1 variant carriers. J Neurol Res. 2024;14(1):43-47 doi: https://doi.org/10.14740/jnr765
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 imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".