Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia

J. D. Schwankhaus, Joseph E Parisi, W. R. Gulledge, L. Chin, R. D. Currier

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

We describe a progressive neurologic disorder in three sisters characterized clinically by palatal myoclonus, spastic weakness, hyperreflexia, mild cerebellar dysfunction, and ocular motor abnormalities. Postmortem examination of one patient demonstrated widespread Rosenthal fiber deposition associated with demyelination. The father previously was reported to have similar pathologic findings and carried a clinical diagnosis of multiple sclerosis. These clinical and pathologic findings describe a rare familial leukodystrophy that corresponds most closely to cases reported as adult Alexander's disease. Although similar pathologically to the well- characterized infantile variant of Alexander's disease, it is not known whether this adult variant represents the same disease process.

Original languageEnglish (US)
Pages (from-to)2266-2271
Number of pages6
JournalNeurology
Volume45
Issue number12
StatePublished - 1995

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Alexander Disease
Spastic Paraparesis
Cerebellar Ataxia
Myoclonus
Eye Abnormalities
Cerebellar Diseases
Abnormal Reflexes
Muscle Spasticity
Demyelinating Diseases
Nervous System Diseases
Fathers
Multiple Sclerosis
Siblings
Autopsy
Spastic Ataxia

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Schwankhaus, J. D., Parisi, J. E., Gulledge, W. R., Chin, L., & Currier, R. D. (1995). Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology, 45(12), 2266-2271.

Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. / Schwankhaus, J. D.; Parisi, Joseph E; Gulledge, W. R.; Chin, L.; Currier, R. D.

In: Neurology, Vol. 45, No. 12, 1995, p. 2266-2271.

Research output: Contribution to journalArticle

Schwankhaus, JD, Parisi, JE, Gulledge, WR, Chin, L & Currier, RD 1995, 'Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia', Neurology, vol. 45, no. 12, pp. 2266-2271.
Schwankhaus JD, Parisi JE, Gulledge WR, Chin L, Currier RD. Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology. 1995;45(12):2266-2271.
Schwankhaus, J. D. ; Parisi, Joseph E ; Gulledge, W. R. ; Chin, L. ; Currier, R. D. / Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. In: Neurology. 1995 ; Vol. 45, No. 12. pp. 2266-2271.
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