Spastic Paraplegia With Neuropathy And Poikiloderma

In a family of Portuguese extraction, Antinolo et al. (1992) described 7 individuals in 4 sibships in 3 generations with a disorder comprising spastic paraplegia, demyelinating peripheral neuropathy, and poikiloderma, manifested by 'delicate, smooth, and wasted' skin from an early age and loss of eyebrows and eyelashes at age 3 years. Electroneurophysiologic studies demonstrated motor and sensory neuropathy. Sural nerve biopsy showed onion bulb formations, indicating demyelination of peripheral nerves. Distal amyotrophy was evident after puberty. There were 2 affected males but no male-to-male transmission.