spastic paraplegia 79A, autosomal dominant, with ataxia
MONDO:0859363Mondo
Findings
No curated finding names spastic paraplegia 79A, autosomal dominant, with ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Gait ataxiaHPOHP:0002066
- 28 of 31 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 24 of 31 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 24 of 31 reported patients
- Lower limb spasticityHPOHP:0002061
- 24 of 31 reported patients
- Intention tremorHPOHP:0002080
- 18 of 31 reported patients
- Optic atrophyHPOHP:0000648
- 9 of 17 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 11 of 21 reported patients
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 16 of 31 reported patients
- DysarthriaHPOHP:0001260
- 9 of 31 reported patients
- DysphagiaHPOHP:0002015
- 9 of 31 reported patients
- Sensory ataxiaHPOHP:0010871
- 2 of 31 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.
- UCHL1HGNC:12513
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of