Article
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Neurogenetics - 1 Apr 2020
Harting Inga, Al-Saady Murtadha, Krägeloh-Mann Ingeborg, Bley Annette, Hempel Maja, Bierhals Tatjana, Karch Stephanie, Moog Ute, Bernard Geneviève, Huntsman Richard, van Spaendonk Rosalina M L, Vreeburg Maaike, Rodríguez-Palmero Agustí, Pujol Aurora, van der Knaap Marjo S, Pouwels Petra J W, Wolf Nicole I
Abstract excerpt
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...
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