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la Piana, R.* ; Cayami, F.K.* ; Tran, L.T.* ; Guerrero, K.* ; van Spaendonk, R.* ; Ounap, K.* ; Pajusalu, S.* ; Haack, T.B. ; Wassmer, E.* ; Timmann, D.* ; Mierzewska, H.* ; Poll-The, B.T.* ; Patel, C.* ; Cox, H.* ; Atik, T.* ; Onay, H.* ; Ozkınay, F.* ; Vanderver, A.* ; van der Knaap, M.S.* ; Wolf, N.I.* ; Bernard, G.*

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 86, 1622-1626 (2016)
Postprint DOI PMC
Open Access Hybrid
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Rna-polymerase Iii; Polr3b Mutations; Pattern-recognition; Recessive Mutations; Leukodystrophy; Leukoencephalopathy; Subunit; Ataxia
Sprache englisch
Veröffentlichungsjahr 2016
HGF-Berichtsjahr 2016
ISSN (print) / ISBN 0028-3878
e-ISSN 1526-632X
Zeitschrift Neurology
Quellenangaben Band: 86, Heft: 17, Seiten: 1622-1626 Artikelnummer: , Supplement: ,
Verlag Lippincott Williams & Wilkins
Verlagsort Philadelphia
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
DOI 10.1212/WNL.0000000000002612
WOS ID WOS:000375050100016
Scopus ID 84964798652
PubMed ID 27029625
Erfassungsdatum 2016-04-15
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