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Case Reports
. 1988 Mar;25(3):168-72.
doi: 10.1136/jmg.25.3.168.

Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy

J S Fitzsimmons  1 , A R Watson, D Mellor, P R Guilbert
Affiliations
Case Reports

Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy

J S Fitzsimmons et al. J Med Genet. 1988 Mar.

Abstract

We present a family in which at least four persons have evidence of an inherited disorder comprising a variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and a progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy (Berger's disease) were found on renal renal biopsy in two affected persons. The glomerular basement membrane showed none of the changes characteristic of Alport's syndrome. Males and females are affected and the segregation of the disease is consistent with dominant transmission.

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