Abstract
REVIEW ON VANISHING WHITE MATTER DISEASE
*Varsha V. Bolar, Grinton Josvi Veigas, Dr. Noah Mani Bose, Ramdas Bhat and Dr. Ravi Kumar Nayak
ABSTRACT
Vanishing white matter (VWM) disease is a type of disorder which mainly affects the brain and spinal cord. This disorder mainly causes deterioration of white matters in Central nervous system specifically the nerve fibres covered with myelin. The basic defect of the disease is caused by mutations in one of the five genes eIF2B1, eIF2B2, eIF2B3, eIF2B4 and eIF2B5 that encodes the five subunits of a protein called eukaryotic translation initiation factor (eIF2B), which is essential for the protein synthesis and regulations in all cells of the body under different stress conditions. VWM disease is characterised by chronic progressive and episodic worsening with ataxia (loss of control of body movements), spasticity (abnormal muscle tightness) and optic atrophy (worsening of vision). This disease is diagnosed on the basis of clinical symptoms in amalgamation with the results of a Magnetic Resonance Imaging (MRI) scan of the brain which shows distinctive pattern of abnormalities in the white matter of the brain.
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