hereditary spastic paraplegia 42
Findings
No curated finding names hereditary spastic paraplegia 42 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
Definition from the Mondo Disease Ontology (MONDO:0012928), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- Degeneration of the lateral corticospinal tractsHPOHP:0002314
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Lower limb hypertoniaHPOHP:0006895
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Pes cavusHPOHP:0001761
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC33A1HGNC:95
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Illumina · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 42
- Also called
- autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1autosomal dominant spastic paraplegia type 42hereditary spastic paraplegia type 42SLC33A1 autosomal dominant pure spastic paraplegiaSPG42