autosomal recessive spastic paraplegia type 78
Findings
No curated finding names autosomal recessive spastic paraplegia type 78 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 ATP13A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014975), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
43 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.
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients
- DysarthriaHPOHP:0001260
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- FallsHPOHP:0002527
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Babinski sign
Show the remaining 31
- Peripheral axonal neuropathyHPOHP:0003477
- 4 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
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.
- ATP13A2HGNC:30213
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive spastic paraplegia type 78
- Also called
- ATP13A2 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in ATP13A2spastic paraplegia 78, autosomal recessivespastic paraplegia 78, autosomal recessive; SPG78SPG78