hereditary spastic paraplegia 72
Findings
No curated finding names hereditary spastic paraplegia 72 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014282), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
19 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
- 13 of 13 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 14 of 14 reported patients
- Spastic gaitHPOHP:0002064
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- 13 of 14 reported patients
- RigidityHPOHP:0002063
- Very frequent (80% to 99% of cases)
- Pes cavusHPOHP:0001761
- 3 of 14 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 7
- PainHPOHP:0012531
- Occasional (5% to 29% of cases)
- Postural tremorHPOHP:0002174
- Occasional (5% to 29% of cases)
- Hoffmann signHPOHP:0031993
- 2 of 8 reported patients
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- 2 of 12 reported patients
- AtaxiaHPOHP:0001251
- 0 of 14 reported patients
- DysarthriaHPOHP:0001260
- 0 of 14 reported patients
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.
- REEP2HGNC:17975
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 72
- Also called
- autosomal spastic paraplegia type 72hereditary spastic paraplegia type 72pure hereditary spastic paraplegia caused by mutation in REEP2REEP2 pure hereditary spastic paraplegiaSPG72