Walsh & Hoyt: Autosomal-Recessive Optic Atrophy with Progressive Hearing Loss, Spastic Quadriplegia, Mental Deterioration, and Death (Opticocochleodentate Degeneration)

An autosomal-recessive syndrome characterized by severe optic atrophy with onset of visual loss in infancy, progressive hearing loss resulting in severe deafness, and progressive spastic quadriplegia beginning in infancy with progressive mental deterioration and death in childhood has been described by several authors. The common denominator in all these patients is a selective, systematized degeneration of the optic, cochlear, dentate, and medial lemniscal systems. The basal ganglia are unaffected in this condition. The diagnosis is made clinically because there are no pathognomonic histochemical, cytochemical, or electron microscopic characteristics found on brain biopsy.