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Diffuse hypomyelination is not obligate for POLR3-related disorders.
Neurology 86, 1622-1626 (2016)
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, corticospinal tract at the level of the internal capsule, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum. RESULTS: Eight patients were identified: 6 carried mutations in POLR3A and 2 in POLR3B. We identified 2 novel MRI patterns: 4 participants presented a selective involvement of the corticospinal tracts, specifically at the level of the posterior limbs of the internal capsules; 4 patients presented moderate to severe cerebellar atrophy. Incomplete hypomyelination was observed in 5 participants. CONCLUSION: Diffuse hypomyelination is not an obligatory feature of POLR3-related disorders. Two distinct patterns, selective involvement of the corticospinal tracts and cerebellar atrophy, are added to the MRI presentation of POLR3-related disorders.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Rna-polymerase Iii; Polr3b Mutations; Pattern-recognition; Recessive Mutations; Leukodystrophy; Leukoencephalopathy; Subunit; Ataxia
ISSN (print) / ISBN
0028-3878
e-ISSN
1526-632X
Journal
Neurology
Quellenangaben
Volume: 86,
Issue: 17,
Pages: 1622-1626
Publisher
Lippincott Williams & Wilkins
Publishing Place
Philadelphia
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)