Neurologic manifestations in 18q- syndrome

G. Miller, P. N. Mowrey, K. D. Hopper, C. A. Frankel, Roger Ladda

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

We report a mother and son with a deletion at 18q22.3. Both have the typical manifestations of the 18q- syndrome. In addition, both have an action tremor which became apparent in childhood. The mother subsequently developed chorea and dysmetria in late adolescence. Magnetic resonance imaging of their brains showed poor myelination of the central white matter tracts with relatively normal myelination of the corpus callosum. We propose that these neurologic findings are most likely due to a failure of expression of the myelin basic protein gene.

Original languageEnglish (US)
Pages (from-to)128-132
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume37
Issue number1
DOIs
StatePublished - Sep 11 1990

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Neurologic Manifestations
Mothers
Chorea
Cerebellar Ataxia
Myelin Basic Protein
Corpus Callosum
Tremor
Nuclear Family
Magnetic Resonance Imaging
Brain
Genes
Chromosome 18 deletion syndrome
White Matter

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Miller, G., Mowrey, P. N., Hopper, K. D., Frankel, C. A., & Ladda, R. (1990). Neurologic manifestations in 18q- syndrome. American Journal of Medical Genetics, 37(1), 128-132. https://doi.org/10.1002/ajmg.1320370130
Miller, G. ; Mowrey, P. N. ; Hopper, K. D. ; Frankel, C. A. ; Ladda, Roger. / Neurologic manifestations in 18q- syndrome. In: American Journal of Medical Genetics. 1990 ; Vol. 37, No. 1. pp. 128-132.
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Miller, G, Mowrey, PN, Hopper, KD, Frankel, CA & Ladda, R 1990, 'Neurologic manifestations in 18q- syndrome', American Journal of Medical Genetics, vol. 37, no. 1, pp. 128-132. https://doi.org/10.1002/ajmg.1320370130

Neurologic manifestations in 18q- syndrome. / Miller, G.; Mowrey, P. N.; Hopper, K. D.; Frankel, C. A.; Ladda, Roger.

In: American Journal of Medical Genetics, Vol. 37, No. 1, 11.09.1990, p. 128-132.

Research output: Contribution to journalArticle

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Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda R. Neurologic manifestations in 18q- syndrome. American Journal of Medical Genetics. 1990 Sep 11;37(1):128-132. https://doi.org/10.1002/ajmg.1320370130