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. 1988 Mar;25(3):168–172. 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 1, D Mellor 1, P R Guilbert 1
PMCID: PMC1015481  PMID: 3351903

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chenevix-Trench G., Leshner R., Mamunes P. Spastic paresis, glaucoma and mental retardation--a probable autosomal recessive syndrome? Clin Genet. 1986 Nov;30(5):416–421. doi: 10.1111/j.1399-0004.1986.tb01900.x. [DOI] [PubMed] [Google Scholar]
  2. Grünfeld J. P. The clinical spectrum of hereditary nephritis. Kidney Int. 1985 Jan;27(1):83–92. doi: 10.1038/ki.1985.14. [DOI] [PubMed] [Google Scholar]
  3. Gubler M., Levy M., Broyer M., Naizot C., Gonzales G., Perrin D., Habib R. Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med. 1981 Mar;70(3):493–505. doi: 10.1016/0002-9343(81)90571-4. [DOI] [PubMed] [Google Scholar]
  4. Harding A. E. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871–883. doi: 10.1136/jnnp.44.10.871. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Kincaid-Smith P., Nicholls K. Mesangial IgA nephropathy. Am J Kidney Dis. 1983 Sep;3(2):90–102. doi: 10.1016/s0272-6386(83)80020-1. [DOI] [PubMed] [Google Scholar]
  6. Lemieux G., Neemeh J. A. Charcot-Marie-Tooth disease and nephritis. Can Med Assoc J. 1967 Nov 11;97(20):1193–1198. [PMC free article] [PubMed] [Google Scholar]
  7. Nicholls K. M., Fairley K. F., Dowling J. P., Kincaid-Smith P. The clinical course of mesangial IgA associated nephropathy in adults. Q J Med. 1984 Spring;53(210):227–250. [PubMed] [Google Scholar]

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