Benign autosomal dominant syndrome of neuronal charcot-marie-tooth disease, ptosis, parkinsonism, and dementia

R. Tandan, R. Taylor, A. Adesina, K. Sharma, T. Fries, W. Pendlebury

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

We present a kindred with a previously undescribed combination of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and mild dementia. The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, ptosis, parkinsonism, hyperreflexia, orthostatic hypotension, central hypoventilation, and mild dementia. Peripheral electrophysiologic studies snowed features of an axonal neuropathy. The electroencephalogram showed intermittent 2 to 4 Hz activity symmetrically in the hemispheres. Several family members in 3 generations had pes cavus, neuropathy, ptosis, parkinsonism, and dementia although not all of the features were consistently present. Survival past the 7th decade was common. Autopsy in 2 affected members revealed the neuropathy to be axonal in type and showed mild to moderate loss of anterior horn cells in the spinal cord and pigmentary loss with gliosis in the substantia nigra. This is a unique, benign, autosomal dominant syndrome which shows complete penetrance, variable expression, and both central and peripheral nervous system involvement.

Original languageEnglish (US)
Pages (from-to)773-779
Number of pages7
JournalNeurology
Volume40
Issue number5
DOIs
StatePublished - May 1990
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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