Description

Recent decades have seen exciting developments in the field of movement disorders. These include identification of rare clinical syndromes and use of technological advances to understand their pathogenesis. Three such disorders are discussed here. The description of the Uner Tan syndrome from Turkey and surrounding regions provoked research into the controversial field of genetically induced devolution. Such cases with few additional findings have now been described from India. Sepiapterin reductase deficiency is a rare treatable autosomal recessive form of dopa responsive dystonia. Indian literature has recently added five confirmed cases to the international database. Such cases are eminently treatable. Successful application of modern technology in understanding the pathogenesis of progressive neurodegenerative disorder has been highlighted in the section on hereditary spastic paraplegias. Hitherto undescribed subcellular organelle transport defects and their potential rectification with known drugs have been demonstrated raising hopes for their cure.

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