Familial spinocerebellar degeneration with corneal dystrophy
We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual i...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , , , |
| التنسيق: | article |
| منشور في: |
1985
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/4841 http://dx.doi.org/10.1002/ajmg.1320200216 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320200216/abstract |
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| _version_ | 1864513464625528832 |
|---|---|
| author | Deeb, Mary E. |
| author2 | Der Kaloustian, Vazken M. Jarudi, Nabil I. Khoury, Muin J. Afifi, Adel K. Bahuth, Nadia B. Shammas, John Mikati, Mohamad A. Opitz, John M. Reynolds, James F. |
| author2_role | author author author author author author author author author |
| author_facet | Deeb, Mary E. Der Kaloustian, Vazken M. Jarudi, Nabil I. Khoury, Muin J. Afifi, Adel K. Bahuth, Nadia B. Shammas, John Mikati, Mohamad A. Opitz, John M. Reynolds, James F. |
| author_role | author |
| dc.creator.none.fl_str_mv | Deeb, Mary E. Der Kaloustian, Vazken M. Jarudi, Nabil I. Khoury, Muin J. Afifi, Adel K. Bahuth, Nadia B. Shammas, John Mikati, Mohamad A. Opitz, John M. Reynolds, James F. |
| dc.date.none.fl_str_mv | 1985 2016-11-23T11:42:56Z 2016-11-23T11:42:56Z 2016-11-23 |
| dc.identifier.none.fl_str_mv | 0148-7299 http://hdl.handle.net/10725/4841 http://dx.doi.org/10.1002/ajmg.1320200216 Kaloustian, V. M. D., Jarudi, N. I., Khoury, M. J., Afifi, A. K., Bahuth, N. B., Deeb, M. E., ... & Reynolds, J. F. (1985). Familial spinocerebellar degeneration with corneal dystrophy. American journal of medical genetics, 20(2), 325-339. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320200216/abstract |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | American Journal of Medical Genetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Familial spinocerebellar degeneration with corneal dystrophy |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual impairment, and slowly progressive cerebellar abnormalities with variable dorsal column and upper motor neuron involvement. A third sister had only minor spinocerebellar signs but no eye findings, and three other sibs were completely normal. Both affected sisters underwent penetrating keratoplasty and their vision improved. Histologic examination showed findings of corneal dystrophy including corneal edema, thickening of Descement membrane, and degenerative pannus. High-resolution light and electron microscopy of muscle and sural nerve performed on both patients was abnormal. It is suggested that, in this family, the corneal dystrophy and spinocerebellar degeneration are pleiotropic manifestations of an autosomal-recessive disorder. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_dc29f52c286a76f201281175f9ad116e |
| identifier_str_mv | 0148-7299 Kaloustian, V. M. D., Jarudi, N. I., Khoury, M. J., Afifi, A. K., Bahuth, N. B., Deeb, M. E., ... & Reynolds, J. F. (1985). Familial spinocerebellar degeneration with corneal dystrophy. American journal of medical genetics, 20(2), 325-339. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/4841 |
| publishDate | 1985 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Familial spinocerebellar degeneration with corneal dystrophyDeeb, Mary E.Der Kaloustian, Vazken M.Jarudi, Nabil I.Khoury, Muin J.Afifi, Adel K.Bahuth, Nadia B.Shammas, JohnMikati, Mohamad A.Opitz, John M.Reynolds, James F.We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual impairment, and slowly progressive cerebellar abnormalities with variable dorsal column and upper motor neuron involvement. A third sister had only minor spinocerebellar signs but no eye findings, and three other sibs were completely normal. Both affected sisters underwent penetrating keratoplasty and their vision improved. Histologic examination showed findings of corneal dystrophy including corneal edema, thickening of Descement membrane, and degenerative pannus. High-resolution light and electron microscopy of muscle and sural nerve performed on both patients was abnormal. It is suggested that, in this family, the corneal dystrophy and spinocerebellar degeneration are pleiotropic manifestations of an autosomal-recessive disorder.PublishedN/A2016-11-23T11:42:56Z2016-11-23T11:42:56Z19852016-11-23Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article0148-7299http://hdl.handle.net/10725/4841http://dx.doi.org/10.1002/ajmg.1320200216Kaloustian, V. M. D., Jarudi, N. I., Khoury, M. J., Afifi, A. K., Bahuth, N. B., Deeb, M. E., ... & Reynolds, J. F. (1985). Familial spinocerebellar degeneration with corneal dystrophy. American journal of medical genetics, 20(2), 325-339.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320200216/abstractenAmerican Journal of Medical Geneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/48412021-03-19T10:03:21Z |
| spellingShingle | Familial spinocerebellar degeneration with corneal dystrophy Deeb, Mary E. |
| status_str | publishedVersion |
| title | Familial spinocerebellar degeneration with corneal dystrophy |
| title_full | Familial spinocerebellar degeneration with corneal dystrophy |
| title_fullStr | Familial spinocerebellar degeneration with corneal dystrophy |
| title_full_unstemmed | Familial spinocerebellar degeneration with corneal dystrophy |
| title_short | Familial spinocerebellar degeneration with corneal dystrophy |
| title_sort | Familial spinocerebellar degeneration with corneal dystrophy |
| url | http://hdl.handle.net/10725/4841 http://dx.doi.org/10.1002/ajmg.1320200216 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320200216/abstract |