{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:48:20Z","timestamp":1790419700123,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>There are a large number of well recognised syndromes comprising cerebellar ataxia in association with other neurological features. We report three family members who presented with a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. All three patients have areflexia (in the absence of a peripheral neuropathy), a pes cavus deformity, and show varying degrees of severity. Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear. This may represent a separate syndrome of early onset cerebellar ataxia with associated features (\"cerebellar ataxia plus\"), which is likely to either have an autosomal dominant or maternal mitochondrial pattern of inheritance. The recognition of this association under the acronym of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural deafness) may help in the delineation of a new syndrome.<\/jats:p>","DOI":"10.1136\/jmg.33.5.419","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"419-421","source":"Crossref","is-referenced-by-count":59,"title":["Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome."],"prefix":"10.1136","volume":"33","author":[{"given":"P","family":"Nicolaides","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R E","family":"Appleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"The hereditary ataxias and related disorders. Clinical neurology and neurosurgery monographs","volume-title":"Vol 6","author":"Harding, A.E.","year":"1984","unstructured":"Harding AE. The hereditary ataxias and related disorders. Clinical neurology and neurosurgery monographs. Vol 6. Edinburgh: Churchill Livingstone, 1984: 1-11."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/brain\/97.1.15","article-title":"Optic and cochleovestibular degenerations in the hereditary ataxias. Clinico-pathological and genetic aspects","volume":"97","author":"L, Van Bogaert; L, Martin","year":"1974","unstructured":"Van Bogaert L, Martin L. Optic and cochleovestibular degenerations in the hereditary ataxias. Clinico-pathological and genetic aspects. Brain 1974;97:15-40.","journal-title":"Brain"},{"issue":"307-1","key":"ref_3","first-page":"1","article-title":"Familial ataxia, deaf mutism and muscular wasting","volume":"13","author":"Matthews, W.B.","year":"1950","unstructured":"Matthews WB. Familial ataxia, deaf mutism and muscular wasting. J Neurol Neurosurg Psychiatry 1950;13:307-1 1.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1001\/archneur.1973.00490280070010","article-title":"A new familial syndrome with ataxia, hearing loss and mental retardation","volume":"29","author":"Berman, W.; Haslam, R.H.A.; Konigsmark, B.W.; Capute, A.J.; Migeon, C.J.","year":"1973","unstructured":"Berman W, Haslam RHA, Konigsmark BW, Capute AJ, Migeon CJ. A new familial syndrome with ataxia, hearing loss and mental retardation. Arch Neurol 1973;29:258-61.","journal-title":"Arch Neurol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/ana.410330519","article-title":"X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course","volume":"33","author":"Arts, W.F.M.; Loonen, R.C.A.; Sengers, A.; Slooff, J.L.","year":"1993","unstructured":"Arts WFM, Loonen RCA, Sengers A, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 1993;33:535-9.","journal-title":"Ann Neurol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1093\/brain\/87.3.463","article-title":"Familial cerebellar ataxia and hypogonadism","volume":"87","author":"Matthews, W.B.; Rundle, A.T.","year":"1964","unstructured":"Matthews WB, Rundle AT. Familial cerebellar ataxia and hypogonadism. Brain 1964;87:463-8.","journal-title":"Brain"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/adc.33.169.217","article-title":"Some unusual findings in a family with Friedreich's ataxia","volume":"33","author":"Sylvester, P.E.","year":"1958","unstructured":"Sylvester PE. Some unusual findings in a family with Friedreich's ataxia. Arch Dis Child 1958;33:217-21.","journal-title":"Arch Dis Child"},{"key":"ref_8","first-page":"642","article-title":"Periodic ataxia. Collected Papers Mayo Clinic","volume":"38","author":"Parker, H.L.","year":"1946","unstructured":"Parker HL. Periodic ataxia. Collected Papers Mayo Clinic 1946;38:642-5."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1017\/S0317167100035022","article-title":"Familial periodic ataxia responsive to acetazolamide","volume":"11","author":"Bouchard, J.P.; Roberge, C.; Van Gelder, N.M.; Barbeau, A.","year":"1984","unstructured":"Bouchard JP, Roberge C, Van Gelder NM, Barbeau A. Familial periodic ataxia responsive to acetazolamide. Can J Neurol Sci 1984;11:550-3.","journal-title":"Can J Neurol Sci"},{"key":"ref_10","first-page":"1443","article-title":"Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on l9p 13","volume":"56","author":"Teh, B.T.; Silburn, P.; Lindblad, K.","year":"1995","unstructured":"Teh BT, Silburn P, Lindblad K, et al. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on l9p 13. Am JfHum Genet 1995;56:1443-9.","journal-title":"Am JfHum Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1001\/archneur.1970.00480220071010","article-title":"Y Optic atrophy, neural deafness and distal neurogenic amyotrophy. Report of a family with two affected siblings","volume":"22","author":"Iwashita, H.; Inoue, N.; Araki, S.; Kuroiwa","year":"1970","unstructured":"Iwashita H, Inoue N, Araki S, Kuroiwa Y Optic atrophy, neural deafness and distal neurogenic amyotrophy. Report of a family with two affected siblings. Arch Neurol 1970; 22:357-64.","journal-title":"Arch Neurol"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ajmg.1320330108","article-title":"Optic atrophy, hearing loss, and peripheral neuropathy","volume":"33","author":"Hagemoser, K.; Weinstein, J.; Bresnick, G.; Nellis, R.; Kirkpatrick, S.; Pauli, R.M.","year":"1989","unstructured":"Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM. Optic atrophy, hearing loss, and peripheral neuropathy. AmJ Med Genet 1989;33:61-5.","journal-title":"AmJ Med Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1136\/jnnp.33.6.817","article-title":"Refsum's syndrome: report of three cases","volume":"33","author":"Quinlan, C.D.; Martin, E.A.","year":"1970","unstructured":"Quinlan CD, Martin EA. Refsum's syndrome: report of three cases.JNeurol Neurosurg Psychiatry 1970;33:817-23.","journal-title":"JNeurol Neurosurg Psychiatry"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.5.419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:30:13Z","timestamp":1760736613000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.5.419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,5]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1996,5,1]]},"published-print":{"date-parts":[[1996,5]]}},"alternative-id":["10.1136\/jmg.33.5.419"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.5.419","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,5]]}}}