{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:40:45Z","timestamp":1791214845811,"version":"4.1.0"},"reference-count":30,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.22.4.267","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"267-273","source":"Crossref","is-referenced-by-count":66,"title":["Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder."],"prefix":"10.1136","volume":"22","author":[{"given":"R A","family":"Pagon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T D","family":"Bird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Detter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Pierce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1985,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1097\/00000441-194606000-00001","article-title":"Hereditary (? sex-linked) anemia","volume":"211","author":"Rundles, R.W.; Falls, H.F.","year":"1946","unstructured":"Rundles RW, Falls HF. Hereditary (? sex-linked) anemia. Ain J Med Sci 1946;211:641-58.","journal-title":"Ain J Med Sci"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0002-9343(58)90036-6","article-title":"An hereditary ancmia with hemochromatosis","volume":"25","author":"N, Gelphi A.P.Ende","year":"1958","unstructured":"Gelphi AP. Ende N. An hereditary ancmia with hemochromatosis. Amn J Med 1958;25:303-14.","journal-title":"Amn J Med"},{"key":"ref_3","first-page":"1","article-title":"Familial pyridoxineresponsive anaemia","volume":"1","author":"MCG, Bournc M.S.Elvcs M.W.Isracls","year":"1965","unstructured":"Bournc MS. Elvcs MW. Isracls MCG. Familial pyridoxineresponsive anaemia. Br J Haematoi 1965:; 1 1:1-10.","journal-title":"Br J Haematoi"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.3.1.1","article-title":"Pyridoxinc-rcsponsive anacmia determined by an X-linked gcne","volume":"3","author":"Elves, M.W.; Israels, Bourne M.S.; M.C.G.","year":"1966","unstructured":"Elves MW, Bourne MS. Israels MCG. Pyridoxinc-rcsponsive anacmia determined by an X-linked gcne. J Med Geniet 1966;3:1-4.","journal-title":"J Med Geniet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1182\/blood.V4.8.891.891","article-title":"Familial hypoechromic anemia associatcd with postsplencctomvn ervthrocvtic inclusion bodics","volume":"4","author":"SP, Mills H.Lucia","year":"1949","unstructured":"Mills H. Lucia SP. Familial hypoechromic anemia associatcd with postsplencctomvn ervthrocvtic inclusion bodics. Blood 1949;4:891-904.","journal-title":"Blood"},{"issue":"55","key":"ref_6","first-page":"103","article-title":"Hereditary iron-loading anemia with secondary hemochromatosis","volume":"1961","author":"Byrd, R.B.; Cooper, T.","unstructured":"Byrd RB, Cooper T. Hereditary iron-loading anemia with secondary hemochromatosis. Atntn Iintertn Med 1961;55:103-23.","journal-title":"Atntn Iintertn Med"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/S0022-3476(57)80255-8","article-title":"Hereditary cerebral palsy","volume":"50","author":"EB, Blumel J.Evans; GWN, Eggers","year":"1957","unstructured":"Blumel J. Evans EB, Eggers GWN. Hereditary cerebral palsy. J Pediatr 1957;50:454-8.","journal-title":"J Pediatr"},{"key":"ref_8","first-page":"13","article-title":"X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg","volume":"1976","author":"Zatz, M.; Penha-Serrano, C.; Otto, P.A.","unstructured":"Zatz M, Penha-Serrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Geniet 1976:13:217-22.","journal-title":"J Med Geniet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1212\/WNL.8.4.261","article-title":"Unusual form of cerebellar ataxia with sex-linked inheritance","volume":"8","author":"Malamud, N.; Cohen, P.","year":"1958","unstructured":"Malamud N, Cohen P. Unusual form of cerebellar ataxia with sex-linked inheritance. Neurology (Minlneap) 1958;8:261-6.","journal-title":"Neurology (Minlneap)"},{"key":"ref_10","first-page":"13","article-title":"Sex-linked spastic paraplcgia","volume":"71","author":"AM, Baar 11I. Gabriel","year":"1966","unstructured":"Baar 11I. Gabriel AM. Sex-linked spastic paraplcgia. Ain J Ment Defic 1966;71:13-8.","journal-title":"Ain J Ment Defic"},{"issue":"87","key":"ref_11","first-page":"74","article-title":"A family with a sex-linked hereditarv ataxia","volume":"1938","author":"E, Turncr E.V.Roberts","unstructured":"Turncr EV. Roberts E. A family with a sex-linked hereditarv ataxia. J Nerr, Ment Dis 1938:87:74-80.","journal-title":"J Nerr, Ment Dis"},{"key":"ref_12","first-page":"83","article-title":"A sex-linked rcccssive inheritancc of spastic paraplegia","volume":"14","author":"VA, Johnston A.W.McKusick","year":"1962","unstructured":"Johnston AW. McKusick VA. A sex-linked rcccssive inheritancc of spastic paraplegia. Ain J Hum Geniet 1962;14:83-94.","journal-title":"Ain J Hum Geniet"},{"key":"ref_13","first-page":"334","article-title":"X-linked spinocerebellar degcneration","volume":"X:","author":"Johnston, A.W.","year":"1974","unstructured":"Johnston AW. X-linked spinocerebellar degcneration. Birth Defects 1974;X:334-6.","journal-title":"Birth Defects"},{"key":"ref_14","first-page":"219","article-title":"Two kindreds with a sex-linked recessive form of spastic paraplegia","volume":"1","author":"BA, Thurmon T.F.Walker; Cl, Scott; MH, Abbott","year":"1971","unstructured":"Thurmon TF. Walker BA, Scott Cl, Abbott MH. Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects 1971;VII(1):219-21.","journal-title":"Birth Defects"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/brain\/102.1.27","article-title":"Evans WA. A spinocerebellar degeneration with X-linked inheritance","volume":"102","author":"s Spira PJ; JG, McLeod","year":"1979","unstructured":",s Spira PJ, McLeod JG. Evans WA. A spinocerebellar degeneration with X-linked inheritance. Braini 1979;102:27-41.","journal-title":"Braini"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/j.1399-0004.1970.tb01639.x","article-title":"X-linked cerebellar ataxia","volume":"1","author":"Shokcir, M.H.K.","year":"1970","unstructured":"Shokcir MHK. X-linked cerebellar ataxia. Clitn Genet 1970;1:225-31.","journal-title":"Clitn Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1056\/NEJM197501232920405","article-title":"Sidcroblasts. siderocytes and sideroblastic anemia","volume":"292","author":"Cartwright, G.E.; Dciss, A.","year":"1975","unstructured":"Cartwright GE, Dciss A. Sidcroblasts. siderocytes and sideroblastic anemia. N Enigi J Med 1975:292:185-93.","journal-title":"N Enigi J Med"},{"key":"ref_18","first-page":"169","article-title":"Porphyrin and iron metabolism in sideroblastic anemia","volume":"14","author":"x Bottomley SS","year":"1977","unstructured":"x Bottomley SS. Porphyrin and iron metabolism in sideroblastic anemia. Semnin Hemnatol 1977;14:169-85.","journal-title":"Semnin Hemnatol"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1056\/NEJM196607282750401","article-title":"Iron-loading anemia","volume":"275","author":"ME, Weintraub L.R.Conrad; WH, Crosby","year":"1966","unstructured":"Weintraub LR. Conrad ME, Crosby WH. Iron-loading anemia. N Enzgl J Med 1966;275:169-76.","journal-title":"N Enzgl J Med"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1182\/blood.V32.6.979.979","article-title":"Porphyrin synthesis and heme synthetase activity in pyridoxinc-responsive anemia","volume":"32","author":"Vogler, W.R.; Mingioli, E.S.","year":"1968","unstructured":"(1 Vogler WR, Mingioli ES. Porphyrin synthesis and heme synthetase activity in pyridoxinc-responsive anemia. Blood 1968;32:979-88.","journal-title":"Blood"},{"key":"ref_21","first-page":"61","article-title":"Haem synthesis during pyridoxine therapy in two families with different types of hereditary sideroblastic anaemia","volume":"14","author":"Pasanen, A.V.O.; Salmi, M.; Tenhunen, R.; Vuopio, P.","year":"1982","unstructured":"Pasanen AVO, Salmi M, Tenhunen R, Vuopio P. Haem synthesis during pyridoxine therapy in two families with different types of hereditary sideroblastic anaemia. Ann Clin Res 1982;14:61-5.","journal-title":"Ann Clin Res"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1111\/j.1365-2141.1979.tb03699.x","article-title":"Haem synthesis in sideroblastic anaemia","volume":"42","author":"Konopka, L.; Hoffbrand, A.V.","year":"1979","unstructured":"Konopka L, Hoffbrand AV. Haem synthesis in sideroblastic anaemia. Br J Haematol 1979;42:73-83.","journal-title":"Br J Haematol"},{"key":"ref_23","first-page":"130","article-title":"Sideroblastic anemia","volume":"138","author":"Hamel, B.C.J.; Schretlen, E.D.A.M.","year":"1982","unstructured":"Hamel BCJ, Schretlen EDAM. Sideroblastic anemia. Eur J Pediatr 1982:138:130-5.","journal-title":"Eur J Pediatr"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1056\/NEJM195909032611004","article-title":"Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine","volume":"261","author":"FM, Bishop R.C.Bethell","year":"1959","unstructured":"Bishop RC. Bethell FM. Hereditary hypochromic anemia with transfusion hemosiderosis treated with pyridoxine. N Engl J Med 1959;261:486-9.","journal-title":"N Engl J Med"},{"issue":"11","key":"ref_25","first-page":"7","article-title":"Hereditary sideroblastic anaemia","volume":"1965","author":"R, Losowsky M.S.Hall","unstructured":"Losowsky MS. Hall R. Hereditary sideroblastic anaemia. Br J Haemnatol 1965:11:7(-85.","journal-title":"Br J Haemnatol"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1172\/JCI105833","article-title":"Hercditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a negro family","volume":"47","author":"Prasad, A.S.; Tranchida, L.; Konno, E.T.","year":"1968","unstructured":"Prasad AS, Tranchida L, Konno ET, et al. Hercditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a negro family. J Clin Invest 1968;47:1415-24.","journal-title":"J Clin Invest"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1182\/blood.V32.1.59.59","article-title":"sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content","volume":"32","author":"GR, X.Lee; WD, MacDiarmid; GE, Cartwright; Hereditary, Wintrobe M.M.; X.-linked","year":"1968","unstructured":"X Lee GR, MacDiarmid WD, Cartwright GE, Wintrobe MM. Hereditary, X-linked. sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content. Blood 1968;32:59-70.","journal-title":"Blood"},{"key":"ref_28","first-page":"744","article-title":"Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation","volume":"ii:","author":"ME, Weatherall D.J.Pembrey; EG, Hall; R, Sanger; P, Tippett; J, Gavin","year":"1970","unstructured":"Weatherall DJ. Pembrey ME, Hall EG, Sanger R, Tippett P, Gavin J. Familial sideroblastic anaemia: problem of Xg and X chromosome inactivation. Lancet 1970;ii:744-8.","journal-title":"Lancet"},{"key":"ref_29","first-page":"141","article-title":"On hereditary ataxia and spastic paraplegia. Treasurs of Humani Inheritance","volume":"4","author":"Bell, J.","year":"1948","unstructured":"Bell J. On hereditary ataxia and spastic paraplegia. Treasurs of Humani Inheritance 1948;4:141-281."},{"key":"ref_30","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"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.4.267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:40:22Z","timestamp":1759689622000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.4.267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":30,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1985,8,1]]},"published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1136\/jmg.22.4.267"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.4.267","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}