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...

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Veröffentlicht in:American journal of medical genetics 1985-02, Vol.20 (2), p.325-339
Hauptverfasser: Kaloustian, Vazken M. Der, Jarudi, Nabil I., Khoury, Muin J., Afifi, Adel K., Bahuth, Nadia B., Deeb, Mary E., Shammas, John, Mikati, Muhammad A., Opitz, John M., Reynolds, James F.
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container_title American journal of medical genetics
container_volume 20
creator Kaloustian, Vazken M. Der
Jarudi, Nabil I.
Khoury, Muin J.
Afifi, Adel K.
Bahuth, Nadia B.
Deeb, Mary E.
Shammas, John
Mikati, Muhammad A.
Opitz, John M.
Reynolds, James F.
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.
doi_str_mv 10.1002/ajmg.1320200216
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Der ; Jarudi, Nabil I. ; Khoury, Muin J. ; Afifi, Adel K. ; Bahuth, Nadia B. ; Deeb, Mary E. ; Shammas, John ; Mikati, Muhammad A. ; Opitz, John M. ; Reynolds, James F.</creator><creatorcontrib>Kaloustian, Vazken M. Der ; Jarudi, Nabil I. ; Khoury, Muin J. ; Afifi, Adel K. ; Bahuth, Nadia B. ; Deeb, Mary E. ; Shammas, John ; Mikati, Muhammad A. ; Opitz, John M. ; Reynolds, James F.</creatorcontrib><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. 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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. 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Prion diseases</subject><subject>Diseases of cornea, anterior segment and sclera</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microscopy, Electron</subject><subject>Muscles - pathology</subject><subject>Neurologic Examination</subject><subject>Neurology</subject><subject>Ophthalmology</subject><subject>Pedigree</subject><subject>Spinal Cord Diseases - genetics</subject><subject>Spinal Cord Diseases - pathology</subject><subject>spinocerebellar degeneration</subject><subject>Sural Nerve - pathology</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkElPwzAQhS0EglI4c0LqAXFL6yWxHcEFsZSlwAXE0XLsSWvIUuxU0H9PolZFnDhZ4_nezJuH0BHBQ4IxHen3cjokjGLaVoRvoR7BKY8kp3Ib9TCJZSRomu6h_RDeMSbtB91Fu0wKigXtofMbXbrC6WIQ5q6qDXjIoCi0H1iYQgVeN66uBl-umQ1M7StoSbsMja_ns-UB2sl1EeBw_fbR6831y-VtNHke311eTCITE9KaERgAuE24TLKUsdTmADSlPBcxAxmbLLbWWK6tyayUuRZWA89slhOtaYpZH52u5s59_bmA0KjSBdPZrKBeBCV4d3sSt-BoBRpfh-AhV3PvSu2XimDV5aW6vNRvXq3ieD16kZVgN_w6oLZ_su7rYHSRe10ZFzZYShIpkw47W2FfroDlf1vVxf3j-I-JaKV2oYHvjVr7D8UFE4l6exorjOVb8nAlFGM_B_2UxA</recordid><startdate>198502</startdate><enddate>198502</enddate><creator>Kaloustian, Vazken M. 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Der</au><au>Jarudi, Nabil I.</au><au>Khoury, Muin J.</au><au>Afifi, Adel K.</au><au>Bahuth, Nadia B.</au><au>Deeb, Mary E.</au><au>Shammas, John</au><au>Mikati, Muhammad A.</au><au>Opitz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial spinocerebellar degeneration with corneal dystrophy</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1985-02</date><risdate>1985</risdate><volume>20</volume><issue>2</issue><spage>325</spage><epage>339</epage><pages>325-339</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. 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subjects Adolescent
Adult
autosomal-recessive inheritance
Biological and medical sciences
Biopsy
Cerebellar Diseases - genetics
Cerebellar Diseases - pathology
Consanguinity
Cornea - pathology
Corneal Dystrophies, Hereditary - genetics
Corneal Dystrophies, Hereditary - pathology
corneal dystropy
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diseases of cornea, anterior segment and sclera
Female
Genes, Recessive
Humans
Male
Medical sciences
Microscopy, Electron
Muscles - pathology
Neurologic Examination
Neurology
Ophthalmology
Pedigree
Spinal Cord Diseases - genetics
Spinal Cord Diseases - pathology
spinocerebellar degeneration
Sural Nerve - pathology
Syndrome
title Familial spinocerebellar degeneration with corneal dystrophy
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