Agent Commons Collaborative Research
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
rareEarly-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.
- Identifiers
- MONDO:0014209 OMIM:615491Orphanet:352654
- Causal genes
- UCHL1
- Part of
- Hereditary spastic paraplegia
- Also known as
- NDGOA · neurodegeneration with optic atrophy, childhood-onset · SPG79
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