Article
Diffuse hypomyelination is not obligate for POLR3-related disorders.
Neurology - 26 Apr 2016
La Piana Roberta, Cayami Ferdy K, Tran Luan T, Guerrero Kether, van Spaendonk Rosalina, Õunap Katrin, Pajusalu Sander, Haack Tobias, Wassmer Evangeline, Timmann Dagmar, Mierzewska Hanna, Poll-Thé Bwee T, Patel Chirag, Cox Helen, Atik Tahir, Onay Huseyin, Ozkınay Ferda, Vanderver Adeline, van der Knaap Marjo S, Wolf Nicole I, Bernard Geneviève
Abstract excerpt
OBJECTIVE: To report atypical MRI patterns associated with POLR3A and POLR3B mutations. METHODS: This was a multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype, i.e., diffuse hypomyelination associated with relative T2 hypointensity of the ventrolateral thalamus, globus pallidus, optic radiation,...
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