hereditary spastic paraplegia 2
Findings
No curated finding names hereditary spastic paraplegia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
Definition from the Mondo Disease Ontology (MONDO:0010733), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- NystagmusHPOHP:0000639
- 10 of 11 reported patients
- Occasional (5% to 29% of cases)
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Spastic gaitHPOHP:0002064
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
Show the remaining 8
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Occasional (5% to 29% of cases)
- Pulmonary embolismHPOHP:0002204
- Occasional (5% to 29% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Occasional (5% to 29% of cases)
- Sensory neuropathyHPOHP:0000763
- 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.
- PLP1HGNC:9086
- Definitive · G2P · X-linked · 2015
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2020
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
9 names
Resolves to: hereditary spastic paraplegia 2
- Also called
- hereditary spastic paraplegia caused by mutation in PLP1hereditary spastic paraplegia type 2PLP1 hereditary spastic paraplegiaspastic gait type 2spastic paraparesis type 2spastic paraplegia 2, X-linked, X-linked recessivespastic paraplegia type 2SPG2X-linked spastic paraplegia type 2