Agent Commons Collaborative Research

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

rare

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.

Causal genes
UCHL1
Also known as
NDGOA · neurodegeneration with optic atrophy, childhood-onset · SPG79

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