Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy.

Daisuke Ito, Masakazu Yamada, Masataka Kawai, Tomohiko Usui, Junnich Hamada, Yasuo Fukuuchi

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations. However, only a few reports have studied disturbances outside the central nervous system. We described 2 unrelated patients with DRPLA accompanied by corneal endothelial degeneration. PATIENTS AND METHODS: A 52-year-old man presented with cerebellar ataxia and dementia. Magnetic resonance imaging of the brain showed cerebellar atrophy. Dentatorubral-pallidoluysian atrophy was diagnosed because of the detection of expansion of CAG repeats at the DRPLA locus. On admission, his visual acuity was severely impaired. Specular microscopy showed decreased endothelial cell density (500 cells/mm(2)) compared with that of healthy subjects. The second patient was a 69-year-old man with cerebellar ataxia. Magnetic resonance imaging of the brain showed cerebellar and brainstem atrophy. The diagnosis of DRPLA was based on expanded CAG repeats of the DRPLA gene. Specular microscopy showed significant decrease of endothelial cell density (1506 cells/mm(2)). Reverse transcriptase-polymerase chain reaction analysis showed DRPLA gene expression in corneal endothelial cells. CONCLUSIONS: Mutant DRPLA protein may be directly associated with corneal endothelial degeneration. Corneal endothelial cell loss is an important sign of DRPLA, and the corneas of patients with DRPLA should be examined.

Original languageEnglish
Pages (from-to)289-291
Number of pages3
JournalArchives of Neurology
Volume59
Issue number2
Publication statusPublished - 2002 Feb

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Progressive Myoclonic Epilepsy
Cerebellar Ataxia
Endothelial Cells
Atrophy
Microscopy
Corneal Endothelial Cell Loss
Cell Count
Magnetic Resonance Imaging
Spinocerebellar Degenerations
Cells
Degeneration
Brain
Neurologic Manifestations
Reverse Transcriptase Polymerase Chain Reaction
Cornea
Visual Acuity
Brain Stem
Dementia
Healthy Volunteers
Central Nervous System

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ito, D., Yamada, M., Kawai, M., Usui, T., Hamada, J., & Fukuuchi, Y. (2002). Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. Archives of Neurology, 59(2), 289-291.

Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. / Ito, Daisuke; Yamada, Masakazu; Kawai, Masataka; Usui, Tomohiko; Hamada, Junnich; Fukuuchi, Yasuo.

In: Archives of Neurology, Vol. 59, No. 2, 02.2002, p. 289-291.

Research output: Contribution to journalArticle

Ito, D, Yamada, M, Kawai, M, Usui, T, Hamada, J & Fukuuchi, Y 2002, 'Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy.', Archives of Neurology, vol. 59, no. 2, pp. 289-291.
Ito D, Yamada M, Kawai M, Usui T, Hamada J, Fukuuchi Y. Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. Archives of Neurology. 2002 Feb;59(2):289-291.
Ito, Daisuke ; Yamada, Masakazu ; Kawai, Masataka ; Usui, Tomohiko ; Hamada, Junnich ; Fukuuchi, Yasuo. / Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. In: Archives of Neurology. 2002 ; Vol. 59, No. 2. pp. 289-291.
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