Skip to main content

Familial spinocerebellar degeneration with corneal dystrophy.

Publication ,  Journal Article
Der Kaloustian, VM; Jarudi, NI; Khoury, MJ; Afifi, AK; Bahuth, NB; Deeb, ME; Shammas, J; Mikati, MA
Published in: Am J Med Genet
February 1985

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 Descemet 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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

February 1985

Volume

20

Issue

2

Start / End Page

325 / 339

Location

United States

Related Subject Headings

  • Syndrome
  • Sural Nerve
  • Spinal Cord Diseases
  • Pedigree
  • Neurologic Examination
  • Muscles
  • Microscopy, Electron
  • Male
  • Humans
  • Genes, Recessive
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Der Kaloustian, V. M., Jarudi, N. I., Khoury, M. J., Afifi, A. K., Bahuth, N. B., Deeb, M. E., … Mikati, M. A. (1985). Familial spinocerebellar degeneration with corneal dystrophy. Am J Med Genet, 20(2), 325–339. https://doi.org/10.1002/ajmg.1320200216
Der Kaloustian, V. M., N. I. Jarudi, M. J. Khoury, A. K. Afifi, N. B. Bahuth, M. E. Deeb, J. Shammas, and M. A. Mikati. “Familial spinocerebellar degeneration with corneal dystrophy.Am J Med Genet 20, no. 2 (February 1985): 325–39. https://doi.org/10.1002/ajmg.1320200216.
Der Kaloustian VM, Jarudi NI, Khoury MJ, Afifi AK, Bahuth NB, Deeb ME, et al. Familial spinocerebellar degeneration with corneal dystrophy. Am J Med Genet. 1985 Feb;20(2):325–39.
Der Kaloustian, V. M., et al. “Familial spinocerebellar degeneration with corneal dystrophy.Am J Med Genet, vol. 20, no. 2, Feb. 1985, pp. 325–39. Pubmed, doi:10.1002/ajmg.1320200216.
Der Kaloustian VM, Jarudi NI, Khoury MJ, Afifi AK, Bahuth NB, Deeb ME, Shammas J, Mikati MA. Familial spinocerebellar degeneration with corneal dystrophy. Am J Med Genet. 1985 Feb;20(2):325–339.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

February 1985

Volume

20

Issue

2

Start / End Page

325 / 339

Location

United States

Related Subject Headings

  • Syndrome
  • Sural Nerve
  • Spinal Cord Diseases
  • Pedigree
  • Neurologic Examination
  • Muscles
  • Microscopy, Electron
  • Male
  • Humans
  • Genes, Recessive