A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L‐2 Hydroxyglutaric Aciduria
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DOI: 10.1002/mdc3.12967
Abstract: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder that is characterized by cerebellar ataxia, intellectual decline, leukoencephalopathy, and elevation of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The diagnosis is based on… read more here.
Keywords: chronic progressive; case; pancerebellar syndrome; progressive pancerebellar ... See more keywords