{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:14:00Z","timestamp":1760832840390,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.25.3.168","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"168-172","source":"Crossref","is-referenced-by-count":11,"title":["Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy."],"prefix":"10.1136","volume":"25","author":[{"given":"J S","family":"Fitzsimmons","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A R","family":"Watson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Mellor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P R","family":"Guilbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jnnp.44.10.871","article-title":"Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families","volume":"44","author":"Harding, A.E.","year":"1981","unstructured":"Harding AE. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-83.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_2","first-page":"241","article-title":"Spastic paraplegia. In: Genetics and neurology","author":"Bundey, S.","year":"1985","unstructured":"Bundey S. Spastic paraplegia. In: Genetics and neurology. Edinburgh: Churchill Livingstone, 1985: 241-61."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/j.1399-0004.1986.tb01900.x","article-title":"Spastic paresis, glaucoma and mental retardation-a probable autosomal recessive syndrome?","volume":"30","author":"Chevenix-Trent, G.; Leschner, R.; Mamunes, P.","year":"1986","unstructured":"Chevenix-Trent G, Leschner R, Mamunes P. Spastic paresis, glaucoma and mental retardation-a probable autosomal recessive syndrome? 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Am J Kid Dis 1983;3:90-102.","journal-title":"Q J Med"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1159\/000399245","article-title":"Natural history of primary glomerulonephritis with mesangial deposits of IgA","volume":"2","author":"Droy, D.","year":"1976","unstructured":"Nicholls KM, Fairley KF, Dowling JP, Kincaid-Smith P. The clinical course of mesangial IgA associated nephropathy in adults. Q J Med 1984;54:227-50.","journal-title":"Contrib Nephrol"},{"key":"ref_8","first-page":"1193","article-title":"Charcot-Marie-Tooth disease and nephritis","volume":"97","author":"Lemieux, G.; Neemeh, J.A.","year":"1967","unstructured":"Droy D. Natural history of primary glomerulonephritis with mesangial deposits of IgA. Contrib Nephrol 1976;2:150-7.","journal-title":"Can Med Assoc J"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.3.168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:48:35Z","timestamp":1760766515000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.3.168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,3]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1988,3,1]]},"published-print":{"date-parts":[[1988,3]]}},"alternative-id":["10.1136\/jmg.25.3.168"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.3.168","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1988,3]]}}}