{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:06Z","timestamp":1791098826594,"version":"4.1.0"},"reference-count":16,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[1995,11,1]],"date-time":"1995-11-01T00:00:00Z","timestamp":815184000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1995,11]]},"abstract":"<jats:p>Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that share peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents, suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and the present family show that hereditary motor and sensory neuropathy type VI is a genetically heterogeneous disorder, with either an autosomal recessive or autosomal dominant pattern of inheritance. (J Child Neurol 1995;10:459-463).<\/jats:p>","DOI":"10.1177\/088307389501000607","type":"journal-article","created":{"date-parts":[[2008,12,24]],"date-time":"2008-12-24T02:13:25Z","timestamp":1230084805000},"page":"459-463","source":"Crossref","is-referenced-by-count":16,"title":["Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI"],"prefix":"10.1177","volume":"10","author":[{"given":"Elly F.","family":"Ippel","sequence":"first","affiliation":[{"name":"Clinical Genetics Center, University Hospital, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dienke","family":"Wittebol-Post","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans G.I.","family":"Jennekens","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University Hospital, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan B.","family":"Bijlsma","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center, University Hospital, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1995,11,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.1.1"},{"key":"atypb2","unstructured":"Dyck PJ: Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons, in Dyck PJ, Lambert EH, Thomas PK (eds): Peripheral Neuropathy. Philadelphia , WB Saunders, 1975, pp 825-867."},{"key":"atypb3","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1992","edition":"10"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1943.02290210057003"},{"key":"atypb5","first-page":"522","volume":"12","author":"Ballet NMG","year":"1904","journal-title":"Rev Neurol (Paris)"},{"key":"atypb6","first-page":"503","volume":"16","author":"Krauss W.","year":"1906","journal-title":"Z Augenheilk"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-193705000-00004"},{"key":"atypb8","first-page":"145","volume":"64","author":"Hoyt WF","year":"1960","journal-title":"Arch Ophthalmol"},{"key":"atypb9","first-page":"58","volume":"68","author":"Brust JCM","year":"1978","journal-title":"Acta Neurol Scand Suppl"},{"key":"atypb10","first-page":"366","volume":"98","author":"Barreira AA","year":"1990","journal-title":"J Neurol Sci"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1970.00480220071010"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.9.827"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1007\/BF02189534"},{"key":"atypb14","unstructured":"Davidenkow S. , cited in Hoogendijk JE, de Jong Jmbv: Hereditary motor and sensory neuropathies\u2014rare variants, in de Jong JMBV (ed): Handbook of Clinical Neurology, vol 16. Amsterdam, Elsevier, 1991, pp 243-253."},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/114.4.1855"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.2.179"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389501000607","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389501000607","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:31:22Z","timestamp":1777494682000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307389501000607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1995,11]]}},"alternative-id":["10.1177\/088307389501000607"],"URL":"https:\/\/doi.org\/10.1177\/088307389501000607","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11]]}}}