Leukodystrophies: Indian scenario.

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.

journal_name

Indian J Pediatr

authors

Singhal BS

doi

10.1007/BF02724013

keywords:

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

315-8

issue

4

eissn

0019-5456

issn

0973-7693

journal_volume

72

pub_type

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