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.
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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