POLR3A variants with striatal involvement and extrapyramidal movement disorder
Abstract
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported....
Paper Details
Title
POLR3A variants with striatal involvement and extrapyramidal movement disorder
Published Date
Jan 15, 2020
Journal
Volume
21
Issue
2
Pages
121 - 133
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Notes
History