Leukodystrophies: Indian scenario.
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.
Singhal
B S
BS
Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, India. bssingl@vsnl.com
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D038261:Alexander Disease / Q000175:diagnosis / Q000235:genetics; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics; D020863:Central Nervous System Cysts / Q000175:diagnosis; D002648:Child; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007194:India; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D009154:Mutation
C425069:MLC1 protein, human; D008565:Membrane Proteins