hereditary spastic paraplegia 3A
Findings
No curated finding names hereditary spastic paraplegia 3A 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 a mutation in the ATL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008437), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile 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.
- Lower limb muscle weaknessHPOHP:0007340
- 11 of 11 reported patients
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Ankle clonusHPOHP:0011448
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophy
Show the remaining 9
- Tip-toe gaitHPOHP:0030051
- Occasional (5% to 29% of cases)
- Urinary urgencyHPOHP:0000012
- Occasional (5% to 29% of cases)
- BradykinesiaHPOHP:0002067
- Very rare (1% to 4% of cases)
- DysarthriaHPOHP:0001260
- Very rare (1% to 4% of cases)
- Frequent fallsHPOHP:0002359
- Very rare (1% to 4% of cases)
- Growth delayHPOHP:0001510
- Very rare (1% to 4% 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.
- ATL1HGNC:11231
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: hereditary spastic paraplegia 3A
- Also called
- ATL1 hereditary spastic paraplegiaautosomal dominant spastic paraplegia type 3FSP1hereditary spastic paraplegia caused by mutation in ATL1hereditary spastic paraplegia type 3Aspastic Paraplegia 3Aspastic paraplegia 3a, autosomal dominantSPG3Astrumpell diseaseStrümpell disease