Spastic Paraparesis And Deafness

Wells and Jankovic (1986) described a chronic neurodegenerative disorder affecting at least 6 males in 3 sibships spanning 3 generations of a family. The features were spastic paraparesis, beginning at about age 10 years, and deafness in all affected members. Additionally, tremor, lens opacities, short stature, and hypogonadism were present. Although the features suggested adrenoleukodystrophy (300100), normal values for very long chain fatty acids appeared to exclude this possibility.