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Leukodystrophies: Indian scenario

  • Symposium on Fest - Schrift for Late Dr. P.M. Udani
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Abstract

The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders. In some leukodystrophies, biochemical enzymatic and genetic defects have been identified. The commonest leukodystrophy seen in India is Megalencephalic Leukodystrophy with subcortical cysts. The essential features consist of large head, mild pyramidal and cerebellar dysfunction, and occasional seizures. MRI studies show extensive white matter changes with temporal cysts. It is common in the Agarwal community in India. An identical mutation in exon 2 of the MLC 1 gene has been identified in this community suggesting a founder effect

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Authors and Affiliations

  1. Department of Neurology, Bombay Hospital Institute of Medical Scienes 12, Marine Lines, 400 020, Mumbai, India

    B. S. Singhal (Professor and Head)

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  1. B. S. Singhal
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Correspondence to B. S. Singhal.

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Singhal, B.S. Leukodystrophies: Indian scenario. Indian J Pediatr 72, 315–318 (2005). https://doi.org/10.1007/BF02724013

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  • DOI: https://doi.org/10.1007/BF02724013

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