Article
A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2025
Kalampokini Stefania, Keramidiotis Iraklis, Ravanidis Stylianos, Lochner Piergiorgio, Kimiskidis Vasilios K, Hadjigeorgiou Georgios M
Abstract excerpt
Background: Cerebellar ataxia is one of the most common movement disorders in mitochondrial disease, with POLG mutations being a frequent cause. This scoping review aimed to summarize current knowledge regarding cerebellar ataxia due to POLG mutations, focusing on epidemiological, clinical, radiological features and genotype-phenotype correlations. Methods: We searched PubMed and Web of Science databases for all...
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