Walsh & Hoyt: Heredity Spastic Paraplegias

The hereditary spastic paraplegias (Strumpell-Lorrain disease) are autosomal-dominant disorders characterized by progressive spasticity of the lower limbs and pathologic reflexes with degeneration or demyelination of the corticospinal system and, to a lesser extent, of the posterior cord and the spinocerebellar system. Several loci have been identified, the most frequent of which is that linked to chromosome 2p22, followed by that linked to chromosome 14q1121. Optic neuropathy and dyschromatopsia with visual acuities ranging from 20/20 to 20/200 have been reported in a few patients with Strumpell-Lorrain disease.