Publications by authors named "Sandhya Jose"
Neuropediatrics
April 2018
Article Synopsis
- Alexander disease (AD) is a genetic disorder linked to mutations in the GFAP gene, primarily causing issues in brain white matter.
- Most patients with AD have identifiable mutations, but some cases remain mutation-negative despite having biopsy-confirmed AD.
- A study reported identical twin boys with symptoms suggestive of AD who were found to have a specific deletion in the GFAP gene, highlighting the need for further research into mutation-negative AD cases.
