spastic ataxia 2
Findings
No curated finding names spastic ataxia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
Definition from the Mondo Disease Ontology (MONDO:0012651), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
36 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.
- DysarthriaHPOHP:0001260
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- DysmetriaHPOHP:0001310
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 6 of 7 reported patients
- Occasional (5% to 29% of cases)
- Head titubationHPOHP:0002599
- 5 of 6 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.
- KIF1CHGNC:6317
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: spastic ataxia 2
- Also called
- autosomal recessive spastic ataxia type 2KIF1C spastic ataxiaspastic ataxia caused by mutation in KIF1Cspastic ataxia type 2SPAX2SPG58