hereditary spastic paraplegia 31
Findings
No curated finding names hereditary spastic paraplegia 31 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
Definition from the Mondo Disease Ontology (MONDO:0012453), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 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
- 6 of 6 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 6 of 6 reported patients
- Spastic gaitHPOHP:0002064
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Brisk reflexesHPOHP:0001348
- Very frequent (80% to 99% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Very frequent (80% to 99% of cases)
- Difficulty running
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.
- REEP1HGNC:25786
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 31
- Also called
- autosomal dominant spastic paraplegia type 31hereditary spastic paraplegia caused by mutation in REEP1hereditary spastic paraplegia type 31REEP1 hereditary spastic paraplegiaSPG31