Glossary & resources
Glossary
- ALS
- Amyotrophic lateral sclerosis: a disease where the motor neurons that control muscles break down.
- FTD / FTLD
- Frontotemporal dementia / lobar degeneration: affects behavior and language; overlaps genetically and biologically with ALS.
- TDP-43
- A nuclear protein that binds RNA and DNA and helps process RNA. Made from the TARDBP gene.
- TARDBP
- The gene that encodes TDP-43. Mutations in it cause a small share of inherited ALS.
- Mislocalization
- When a protein ends up in the wrong part of the cell — for TDP-43, outside the nucleus.
- Aggregate / inclusion
- A clump of misfolded protein inside a cell.
- Cryptic exon
- A piece of a gene that normally gets cut out of the RNA. When TDP-43 is missing, it gets left in and spoils the message.
- Cryptic peptide / neoepitope
- A new protein piece made from a cryptic exon. It shouldn't exist in healthy cells, so detecting it is a sign TDP-43 isn't working.
- STMN2 (stathmin-2)
- A protein for nerve fiber growth and repair; lost when TDP-43 fails.
- UNC13A
- A protein needed for nerve cells to send signals at synapses; lost when TDP-43 fails.
- HDGFL2
- A gene whose cryptic exon makes a detectable abnormal protein when TDP-43 fails; a leading candidate fluid biomarker.
- ASO (antisense oligonucleotide)
- A short synthetic strand that sticks to a specific RNA to block, lower or fix it. Usually given by spinal injection (intrathecal).
- AAV gene therapy
- A harmless virus shell used to deliver genetic instructions into cells, often as a one-time dose.
- Vectorized antibody
- An antibody that the body's own cells make after gene therapy delivers the instructions.
- Biomarker
- Something measurable (in blood, spinal fluid, imaging) that reflects disease or drug effect.
- CSF (cerebrospinal fluid)
- The fluid around the brain and spinal cord, collected by lumbar puncture (spinal tap).
- NfL / pNfH
- Neurofilament proteins released when nerve fibers are damaged; measured in blood or spinal fluid.
- Seed amplification assay (SAA / RT-QuIC)
- A lab test that uses a tiny amount of misfolded protein in a sample to make more misfolded protein, so it becomes detectable.
- Extracellular vesicle (EV)
- A tiny bubble released by cells that carries proteins and RNA; some from the brain reach the blood.
- PET tracer
- A weakly radioactive dye injected for a brain scan that sticks to a specific target, such as protein clumps.
- Mass spectrometry
- A lab method that identifies proteins and peptides by precisely weighing their fragments.
- ALSFRS-R
- A 48-point questionnaire scoring everyday function (speech, swallowing, walking, breathing). Used as a main trial outcome.
- Autophagy
- The cell's recycling system that breaks down damaged proteins and clumps.
- Platform trial
- One trial that tests several drugs against a shared placebo group, like the HEALEY ALS Platform Trial.
- Post-hoc analysis
- An analysis decided after seeing the data; useful for ideas but weaker evidence.
Trusted organizations
- ALS Therapy Development Institute (ALS TDI) — Nonprofit drug-discovery lab; runs the ALS Research Collaborative.
- Answer ALS — Open-access patient data and stem-cell (iPSC) resource.
- Target ALS — Funds research and shares biosamples; hosts an annual meeting where many TDP-43 results are presented.
- ALS Association — Care services, research funding, advocacy.
- NEALS (Northeast ALS Consortium) — Network of trial sites; includes a trial finder.
- HEALEY ALS Platform Trial — Mass General platform trial.
- ClinicalTrials.gov — Official US trial registry.
- Alzforum therapeutics database — Independent drug profiles.
- I AM ALS — Patient-led community and advocacy.