Leukodystrophies: Indian scenario.

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dc.contributor.authorSinghal, B Sen_US
dc.date.accessioned2005-04-07en_US
dc.date.accessioned2009-05-30T12:30:41Z
dc.date.available2005-04-07en_US
dc.date.available2009-05-30T12:30:41Z
dc.date.issued2005-04-07en_US
dc.description18 references.en_US
dc.description.abstractThe 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.en_US
dc.description.affiliationDepartment of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, India. bssingl@vsnl.comen_US
dc.identifier.citationSinghal BS. Leukodystrophies: Indian scenario. Indian Journal of Pediatrics. 2005 Apr; 72(4): 315-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/80759
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshAdrenoleukodystrophy --diagnosisen_US
dc.subject.meshAdulten_US
dc.subject.meshAlexander Disease --diagnosisen_US
dc.subject.meshCanavan Disease --diagnosisen_US
dc.subject.meshCentral Nervous System Cysts --diagnosisen_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshHereditary Central Nervous System Demyelinating Diseases --diagnosisen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshInfanten_US
dc.subject.meshLeukodystrophy, Globoid Cell --diagnosisen_US
dc.subject.meshLeukodystrophy, Metachromatic --diagnosisen_US
dc.subject.meshMagnetic Resonance Imagingen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteinsen_US
dc.subject.meshMutationen_US
dc.titleLeukodystrophies: Indian scenario.en_US
dc.typeJournal Articleen_US
dc.typeReviewen_US
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