early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Findings
No curated finding names early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
Definition from the Mondo Disease Ontology (MONDO:0014209), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
29 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
- 3 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 6 of 6 reported patients
- HyperreflexiaHPOHP:0001347
- 6 of 6 reported patients
- Impaired proprioceptionHPOHP:0010831
- 6 of 6 reported patients
- Impaired vibration sensation at anklesHPOHP:0006938
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 recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of