Abstract
We report two families in which a non-progressive spinocerebellar syndrome and a sideroblastic anaemia are segregating together in an X linked recessive fashion. Four males in two generations of one family and a fifth male from an unrelated family had both conditions. Both the sideroblastic anaemia and the spinocerebellar syndrome differ from those which have previously been reported to be inherited in an X linked recessive manner. The association of these two clinically distinct disorders in two unrelated families suggests that they are either two closely linked loci which have undergone simultaneous mutation or pleiotropic effects of an altered allele at a single locus. All the heterozygous women had normal neurological examinations and normal haematocrits and red cell indices. Some had ring sideroblasts on bone marrow examination, a dimorphic peripheral blood smear, and raised serum free erythrocyte protoporphyrin, suggesting that a proportion of heterozygotes can be detected by appropriate haematological studies.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BISHOP R. C., BETHELL F. H. Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine: report of a case. N Engl J Med. 1959 Sep 3;261:486–489. doi: 10.1056/NEJM195909032611004. [DOI] [PubMed] [Google Scholar]
- BLUMEL J., EVANS E. B., EGGERS G. W. Hereditary cerebral palsy; a preliminary report. J Pediatr. 1957 Apr;50(4):454–458. doi: 10.1016/s0022-3476(57)80255-8. [DOI] [PubMed] [Google Scholar]
- BYRD R. B., COOPER T. Hereditary iron-loading anemia with secondary hemochromatosis. Ann Intern Med. 1961 Jul;55:103–123. doi: 10.7326/0003-4819-55-1-103. [DOI] [PubMed] [Google Scholar]
- Baar H. S., Gabriel A. M. Sex-linked spastic paraplegia. Am J Ment Defic. 1966 Jul;71(1):13–18. [PubMed] [Google Scholar]
- Bottomley S. S. Porphyrin and iron metabolism in sideroblastic anemia,. Semin Hematol. 1977 Apr;14(2):169–185. [PubMed] [Google Scholar]
- Cartwright G. E., Deiss A. Sideroblasts, siderocytes, and sideroblastic anemia. N Engl J Med. 1975 Jan 23;292(4):185–193. doi: 10.1056/NEJM197501232920405. [DOI] [PubMed] [Google Scholar]
- Elves M. W., Bourne M. S., Israëls M. C. Pyridoxine-responsive anaemia determined by an X-linked gene. J Med Genet. 1966 Mar;3(1):1–4. doi: 10.1136/jmg.3.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
- GELPI A. P., ENDE N. An hereditary anemia with hemochromatosis; studies of an unusual hemopathic syndrome resembling thalassemia. Am J Med. 1958 Aug;25(2):303–314. doi: 10.1016/0002-9343(58)90036-6. [DOI] [PubMed] [Google Scholar]
- Hamel B. C., Schretlen E. D. Sideroblastic anaemia. A review of seven paediatric cases. Eur J Pediatr. 1982 Mar;138(2):130–135. doi: 10.1007/BF00441138. [DOI] [PubMed] [Google Scholar]
- 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]
- JOHNSTON A. W., McKUSICK V. A. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet. 1962 Mar;14:83–94. [PMC free article] [PubMed] [Google Scholar]
- Konopka L., Hoffbrand A. V. Haem synthesis in sideroblastic anaemia. Br J Haematol. 1979 May;42(1):73–83. doi: 10.1111/j.1365-2141.1979.tb03699.x. [DOI] [PubMed] [Google Scholar]
- Lee G. R., MacDiarmid W. D., Cartwright G. E., Wintrobe M. M. Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content. Blood. 1968 Jul;32(1):59–70. [PubMed] [Google Scholar]
- MALAMUD N., COHEN P. Unusual form of cerebellar ataxia with sex-linked inheritance. Neurology. 1958 Apr;8(4):261–266. doi: 10.1212/wnl.8.4.261. [DOI] [PubMed] [Google Scholar]
- Pasanen A. V., Salmi M., Tenhunen R., Vuopio P. Haema synthesis during pyridoxine therapy in two families with different types of hereditary sideroblastic anaemia. Ann Clin Res. 1982 Apr;14(2):61–65. [PubMed] [Google Scholar]
- Prasad A. S., Tranchida L., Konno E. T., Berman L., Albert S., Sing C. F., Brewer G. J. Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. J Clin Invest. 1968 Jun;47(6):1415–1424. doi: 10.1172/JCI105833. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Spira P. J., McLeod J. G., Evans W. A. A spinocerebellar degeneration with X-linked inheritance. Brain. 1979 Mar;102(1):27–41. doi: 10.1093/brain/102.1.27. [DOI] [PubMed] [Google Scholar]
- Sugarman G. I. Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings. Birth Defects Orig Artic Ser. 1974;10(12):334–340. [PubMed] [Google Scholar]
- Thurmon T. F., Walker B. A., Scott C. I., Abbott M. H. Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects Orig Artic Ser. 1971 Feb;7(1):219–221. [PubMed] [Google Scholar]
- Vogler W. R., Mingioli E. S. Porphyrin synthesis and heme synthetase activity in pyridoxine-responsive anemia. Blood. 1968 Dec;32(6):979–988. [PubMed] [Google Scholar]
- Weatherall D. J., Pembrey M. E., Hall E. G., Sanger R., Tippett P., Gavin J. Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation. Lancet. 1970 Oct 10;2(7676):744–748. doi: 10.1016/s0140-6736(70)90221-7. [DOI] [PubMed] [Google Scholar]
- Weintraub L. R., Conrad M. E., Crosby W. H. Iron-loading anemia. Treatment with repeated phlebotomies and pyridoxine. N Engl J Med. 1966 Jul 28;275(4):169–176. doi: 10.1056/NEJM196607282750401. [DOI] [PubMed] [Google Scholar]
- Zatz M., Penha-Serrano C., Otto P. A. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet. 1976 Jun;13(3):217–222. doi: 10.1136/jmg.13.3.217. [DOI] [PMC free article] [PubMed] [Google Scholar]