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Callosal alterations in pyridoxine-dependent epilepsy.

Publication ,  Journal Article
Friedman, SD; Ishak, GE; Poliachik, SL; Poliakov, AV; Otto, RK; Shaw, DWW; Willemsen, MA; Bok, LA; Gospe, SM
Published in: Dev Med Child Neurol
November 2014

AIM: While there have been isolated reports of callosal morphology differences in pyridoxine-dependent epilepsy (PDE), a rare autosomal disorder caused by ALDH7A1 gene mutations, no study has systematically evaluated callosal features in a large sample of patients. This study sought to overcome this knowledge gap. METHOD: Spanning a wide age range from birth to 48 years, corpus callosum morphology and cross-sectional cerebral area were measured in 30 individuals with PDE (12 males, 18 females, median age 3.92y; 25th centile 0.27, 75th centile 15.25) compared to 30 age-matched comparison individuals (11 males, 19 females, median age 3.85y; 25th centile 0.26, 75th centile 16.00). Individuals with PDE were also divided into age groups to evaluate findings across development. As delay to treatment may modulate clinical severity, groups were stratified by treatment delay (less than or greater than 2wks from birth). RESULTS: Markedly reduced callosal area expressed as a ratio of mid-sagittal cerebral area was observed for the entire group with PDE (p<0.001). Stratifying by age (<1y, 1-10y, >10y) demonstrated posterior abnormalities to be a consistent feature, with anterior regions increasingly involved across the developmental trajectory. Splitting the PDE group by treatment lag did not reveal overall or sub-region callosal differences. INTERPRETATION: Callosal abnormalities are a common feature of PDE not explained by treatment lag. Future work utilizing tract-based approaches to understand inter- and intra-hemispheric connectivity patterns will help in the better understanding the structural aspects of this disease.

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Published In

Dev Med Child Neurol

DOI

EISSN

1469-8749

Publication Date

November 2014

Volume

56

Issue

11

Start / End Page

1106 / 1110

Location

England

Related Subject Headings

  • Pediatrics
  • Mutation
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Female
  • Epilepsy
  • Corpus Callosum
  • Child, Preschool
  • Case-Control Studies
 

Citation

APA
Chicago
ICMJE
MLA
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Friedman, S. D., Ishak, G. E., Poliachik, S. L., Poliakov, A. V., Otto, R. K., Shaw, D. W. W., … Gospe, S. M. (2014). Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol, 56(11), 1106–1110. https://doi.org/10.1111/dmcn.12511
Friedman, Seth D., Gisele E. Ishak, Sandra L. Poliachik, Andrew V. Poliakov, Randolph K. Otto, Dennis W. W. Shaw, Michèl A. Willemsen, Levinus A. Bok, and Sidney M. Gospe. “Callosal alterations in pyridoxine-dependent epilepsy.Dev Med Child Neurol 56, no. 11 (November 2014): 1106–10. https://doi.org/10.1111/dmcn.12511.
Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DWW, et al. Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol. 2014 Nov;56(11):1106–10.
Friedman, Seth D., et al. “Callosal alterations in pyridoxine-dependent epilepsy.Dev Med Child Neurol, vol. 56, no. 11, Nov. 2014, pp. 1106–10. Pubmed, doi:10.1111/dmcn.12511.
Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DWW, Willemsen MA, Bok LA, Gospe SM. Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol. 2014 Nov;56(11):1106–1110.
Journal cover image

Published In

Dev Med Child Neurol

DOI

EISSN

1469-8749

Publication Date

November 2014

Volume

56

Issue

11

Start / End Page

1106 / 1110

Location

England

Related Subject Headings

  • Pediatrics
  • Mutation
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Female
  • Epilepsy
  • Corpus Callosum
  • Child, Preschool
  • Case-Control Studies