Spinocerebellar Ataxia-21 in a Turkish Child.

Ann Indian Acad Neurol

Department of Pediatric Neurology, Medical Faculty, Cukurova University, Adana, Turkey.

Published: January 2018

Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909149PMC
http://dx.doi.org/10.4103/aian.AIAN_415_17DOI Listing

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