Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy

Fitzsimmons et al. (1988) presented a family in which at least 4 persons had evidence of an inherited disorder manifested by variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger disease; 161950) were found on renal biopsy in 2 affected persons. The glomerular basement membrane showed none of the changes characteristic of Alport syndrome. A mother and her 2 sons and 1 daughter by 2 different fathers were affected. By history, her deceased mother and maternal uncle were also affected.