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A genetic hypothesis for Chiari I malformation with or without syringomyelia.

Publication ,  Journal Article
Speer, MC; George, TM; Enterline, DS; Franklin, A; Wolpert, CM; Milhorat, TH
Published in: Neurosurg Focus
March 15, 2000

In several reports the authors have suggested occasional familial aggregation of syringomyelia and/or Chiari 1 malformation (CM1). Familial aggregation is one characteristic of traits that have an underlying genetic basis. The authors provide evidence for familial aggregation of CM1 and syringomyelia (CM1/S) in a large series of families, establishing that there may be a genetic component to CM1/S in at least a subset of families. The authors observed no cases of isolated familial syringomyelia in their family studies, suggesting that familial syringomyelia is more accurately classified as familial CM1 with associated syringomyelia. These data, together with the cosegregation of the trait with known genetic syndromes, support the authors' hypothesis of a genetic basis for some CM1/S cases.

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Published In

Neurosurg Focus

DOI

EISSN

1092-0684

Publication Date

March 15, 2000

Volume

8

Issue

3

Start / End Page

E12

Location

United States

Related Subject Headings

  • Syringomyelia
  • Neurology & Neurosurgery
  • Male
  • Humans
  • Genetic Predisposition to Disease
  • Female
  • Arnold-Chiari Malformation
  • 3209 Neurosciences
  • 1109 Neurosciences
  • 1103 Clinical Sciences
 

Citation

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Speer, M. C., George, T. M., Enterline, D. S., Franklin, A., Wolpert, C. M., & Milhorat, T. H. (2000). A genetic hypothesis for Chiari I malformation with or without syringomyelia. Neurosurg Focus, 8(3), E12. https://doi.org/10.3171/foc.2000.8.3.12
Speer, M. C., T. M. George, D. S. Enterline, A. Franklin, C. M. Wolpert, and T. H. Milhorat. “A genetic hypothesis for Chiari I malformation with or without syringomyelia.Neurosurg Focus 8, no. 3 (March 15, 2000): E12. https://doi.org/10.3171/foc.2000.8.3.12.
Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH. A genetic hypothesis for Chiari I malformation with or without syringomyelia. Neurosurg Focus. 2000 Mar 15;8(3):E12.
Speer, M. C., et al. “A genetic hypothesis for Chiari I malformation with or without syringomyelia.Neurosurg Focus, vol. 8, no. 3, Mar. 2000, p. E12. Pubmed, doi:10.3171/foc.2000.8.3.12.
Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH. A genetic hypothesis for Chiari I malformation with or without syringomyelia. Neurosurg Focus. 2000 Mar 15;8(3):E12.

Published In

Neurosurg Focus

DOI

EISSN

1092-0684

Publication Date

March 15, 2000

Volume

8

Issue

3

Start / End Page

E12

Location

United States

Related Subject Headings

  • Syringomyelia
  • Neurology & Neurosurgery
  • Male
  • Humans
  • Genetic Predisposition to Disease
  • Female
  • Arnold-Chiari Malformation
  • 3209 Neurosciences
  • 1109 Neurosciences
  • 1103 Clinical Sciences