Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.

[6] Onset : Early childhood Progression: Chronic progressive Clinical: Cerebellar ataxia plus syndrome / Optic Atrophy Plus Syndrome Ocular: Optic atrophy, nystagmus, scotoma, and bilateral retrobulbar neuritis.

Other: Mental retardation, myoclonic epilepsy, spasticity, and posterior column sensory loss.

[6] Autopsy on one of the sister with Behr Syndrome revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis.

Similar spheroids with cell loss and gliosis were also observed in other thalamic nuclei and, rarely, in the pallida.