spastic paraplegia 82, autosomal recessive
Findings
No curated finding names spastic paraplegia 82, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0032906), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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
- 5 of 5 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Developmental regressionHPOHP:0002376
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- NystagmusHPOHP:0000639
Show the remaining 2
- Focal-onset seizureHPOHP:0007359
- 2 of 5 reported patients · Childhood onset
- Optic atrophyHPOHP:0000648
- 1 of 4 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.
- PCYT2HGNC:8756
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: spastic paraplegia 82, autosomal recessive
- Also called
- autosomal recessive spastic paraplegia type 82SPG82