TY  - JOUR
AU  - Synofzik, Matthis
AU  - Bernard, Geneviève
AU  - Lindig, Tobias
AU  - Gburek-Augustat, Janina
TI  - Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
JO  - Neurology
VL  - 81
IS  - 19
SN  - 0028-3878
CY  - [S.l.]
PB  - Ovid
M1  - DZNE-2020-03570
SP  - e145-e145
PY  - 2013
AB  - An 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism). POLR3B sequencing(1) revealed 2 compound heterozygous mutations (C527R [C.1579T>C] and the common ancestral V523E [C.1568T>A](2)).
KW  - Adolescent
KW  - Anodontia: complications
KW  - Anodontia: genetics
KW  - Anodontia: pathology
KW  - Female
KW  - Hereditary Central Nervous System Demyelinating Diseases: complications
KW  - Hereditary Central Nervous System Demyelinating Diseases: genetics
KW  - Hereditary Central Nervous System Demyelinating Diseases: pathology
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Mouth: pathology
KW  - RNA Polymerase III: genetics
KW  - POLR3B protein, human (NLM Chemicals)
KW  - RNA Polymerase III (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:24190003
C2  - pmc:PMC3812106
DO  - DOI:10.1212/01.wnl.0000435300.64776.7e
UR  - https://pub.dzne.de/record/137248
ER  -