Teaching NeuroImages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B Look into a leukodystrophy's mouth

Neurology

Volumn 81, Issue 19, 2013, Pages

  Synofzik, Matthis ^a,b   Bernard, Geneviève ^c   Lindig, Tobias ^b   Gburek Augustat, Janina ^d  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILDHOOD DISEASE; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; CORPUS CALLOSUM; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; GENE; GENE MUTATION; GERMANY; HETEROZYGOTE; HUMAN; HYPODONTIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOMYELINATION; HYPOPLASIA; LEUKODYSTROPHY; NEUROIMAGING; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLR3B GENE; PRIORITY JOURNAL; TOOTH CROWN; TOOTH MALFORMATION; TOOTH RADIOGRAPHY; TOOTH ROOT;

ADOLESCENT; ANODONTIA; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MOUTH; RNA POLYMERASE III;

EID: 84888228684     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000435300.64776.7e     Document Type: Note

References (2)

1. Tetreault M, Choquet K, Orcesi S, et al. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet 2011;89:652-655.
2. Daoud H, Tetreault M, Gibson W, et al. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet 2013;50:194-197.