Trait
Upper motor neuron dysfunction
A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
Summary
- Also called
- Corticospinal tract dysfunction, Pyramidal tract dysfunction
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test39 genes linked to Upper motor neuron dysfunction
Changes in these genes cause rare conditions in which Upper motor neuron dysfunction is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| BCAS3BCAS3 microtubule associated cell migration factor | Always | In 1 condition |
| RBM28RNA binding motif protein 28 | Always | In 1 condition |
| ATXN3ataxin 3 | Very often (80–99%) | In 3 conditions |
| GALCgalactosylceramidase | Very often (80–99%) | In 2 conditions |
| MTHFRmethylenetetrahydrofolate reductase | Very often (80–99%) | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Very often (80–99%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Very often (80–99%) | In 1 condition |
| VPS41VPS41 subunit of HOPS complex | Very often (80–99%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Often (30–79%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| KIF5Akinesin family member 5A | Often (30–79%) | In 1 condition |
| L1CAML1 cell adhesion molecule | Often (30–79%) | In 1 condition |
| LMNB1lamin B1 | Often (30–79%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Often (30–79%) | In 1 condition |
| PANK2pantothenate kinase 2 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| ASPAaspartoacylase | Sometimes (5–29%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Sometimes (5–29%) | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Sometimes (5–29%) | In 1 condition |
| GRNgranulin precursor | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Sometimes (5–29%) | In 1 condition |
| MAPTmicrotubule associated protein tau | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| PSEN1presenilin 1 | Sometimes (5–29%) | In 1 condition |
| SELENOIselenoprotein I | Sometimes (5–29%) | In 1 condition |
| SQSTM1sequestosome 1 | Sometimes (5–29%) | In 1 condition |
| TMEM106Btransmembrane protein 106B | Sometimes (5–29%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 2 conditions |
| CTSKcathepsin K | Rarely (1–4%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Not recorded | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Not recorded | In 1 condition |
| HEXBhexosaminidase subunit beta | Not recorded | In 1 condition |
| SACSsacsin molecular chaperone | Not recorded | In 1 condition |
| SPTBN2spectrin beta, non-erythrocytic 2 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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