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Callosal alterations in pyridoxine‐dependent epilepsy
Author(s) -
Friedman Seth D,
Ishak Gisele E,
Poliachik Sandra L,
Poliakov Andrew V,
Otto Randolph K,
Shaw Dennis W W,
Willemsen Michèl A,
Bok Levinus A,
Gospe Sidney M
Publication year - 2014
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12511
Subject(s) - corpus callosum , epilepsy , disease , medicine , psychology , neuroscience
Aim While there have been isolated reports of callosal morphology differences in pyridoxine‐dependent epilepsy ( PDE ), a rare autosomal disorder caused by ALDH 7A1 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.