Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder
Corresponding Author
Hansashree Padmanabha
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Correspondence
Hansashree Padmanabha, Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560029, India.
Email: [email protected]
Search for more papers by this authorRavi Shekhar
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorRohan Mahale
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorHarikrishna Annam
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorMaya Bhat
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorThuppanattumadam A. Sangeeth
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorRita Christopher
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorGautham Arunachal
Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorPooja Mailankody
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorPavagada S. Mathuranath
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorCorresponding Author
Hansashree Padmanabha
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Correspondence
Hansashree Padmanabha, Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560029, India.
Email: [email protected]
Search for more papers by this authorRavi Shekhar
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorRohan Mahale
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorHarikrishna Annam
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorMaya Bhat
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorThuppanattumadam A. Sangeeth
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorRita Christopher
Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorGautham Arunachal
Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorPooja Mailankody
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this authorPavagada S. Mathuranath
Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru, India
Search for more papers by this author
REFERENCES
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- 2Aljassim N, Alfadhel M, Nashabat M, Eyaid W. Clinical presentation of seven patients with methylenetetrahydrofolate reductase deficiency. Mol Genet Metab Rep. 2020; 25:100644. https://doi.org/10.1016/j.ymgmr.2020.100644 PMID: 32939339; PMCID: PMC7479436.
- 3Ismayilova N, MacKinnon AD, Mundy H, Fallon P. Reversible cerebral white matter abnormalities in homocystinuria. JIMD Rep. 2019; 44: 115-119. https://doi.org/10.1007/8904_2018_135 PMID: 30187370; PMCID: PMC6323022.
- 4Tallur KK, Johnson DA, Kirk JM, Sandercock PA, Minns RA. Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. Dev Med Child Neurol. 2005; 47(1): 53-56. https://doi.org/10.1017/s0012162205000095 PMID: 15686290.
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