Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies

被引：50

作者：

La Piana, Roberta ^{[1
]}

Tonduti, Davide ^{[2
]}

Dressman, Heather Gordish ^{[3
]}

Schmidt, Johanna L. ^{[3
]}

Murnick, Jonathan ^{[4
]}

Brais, Bernard ^{[5
,6
]}

Bernard, Genevieve ^{[7
]}

Vanderver, Adeline ^{[3
]}

机构：

[1] McGill Univ, Dept Neuroradiol, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada

[2] Univ Pavia, Dept Brain & Behav Sci, Child Neuropsychiat Unit, I-27100 Pavia, Italy

[3] Childrens Natl Med Ctr, Dept Neurol, CGMR, Washington, DC 20010 USA

[4] Childrens Natl Med Ctr, Dept Radiol, Div Neuroradiol, Washington, DC 20010 USA

[5] McGill Univ, Dept Neurol & Neurosurg, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada

[6] McGill Univ, Dept Human Genet, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada

[7] Montreal Childrens Hosp, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

来源：

JOURNAL OF CHILD NEUROLOGY | 2014年 / 29卷 / 02期

关键词：

leukodystrophy; magnetic resonance imaging; hypomyelination; HYPOMYELINATING LEUKODYSTROPHY; HYPOGONADOTROPIC HYPOGONADISM; CEREBELLAR ATROPHY; HYPODONTIA; LEUKOENCEPHALOPATHY; MUTATIONS; SUBUNIT; ATAXIA;

D O I：

10.1177/0883073813503902

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pol III-related leukodystrophies are caused by mutations in POLR3A and POLR3B genes and all share peculiar imaging and clinical features. The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the neuroradiologic pattern of Pol III-related leukodystrophies with other hypomyelinating disorders. The magnetic resonance imaging (MRI) examinations of 13 patients with POLR3A and POLR3B mutations and of 14 patients with other hypomyelinating disorders were analyzed. All the subjects with Pol III-related leukodystrophies presented hypomyelination associated with T2 hypointensity of the thalami and/or the pallida. Twelve subjects (92%) presented T2 hypointensity of the optic radiations. Cerebellar atrophy was observed in most patients (92%). The combination of the analyzed criteria identified patients with Pol III-related leukodystrophies with a sensitivity of 84.6% and a specificity of 92.9%.

引用

页码：214 / 220

页数：7

共 26 条

[1] Leukodystrophy associated with oligodontia in a large inbred family:: Fortuitous association or new entity? [J].

Atrouni, S ;

Darazé, A ;

Tamraz, J ;

Cassia, A ;

Caillaud, C ;

Mégarbané, A .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 118A (01) :76-81

[2] Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient [J].

Bekiesinska-Figatowska, Monika ;

Mierzewska, Hanna ;

Kuczynska-Zardzewialy, Arleta ;

Szczepanik, Elzbieta ;

Obersztyn, Ewa .

BRAIN & DEVELOPMENT, 2010, 32 (07) :574-578

[3]

Bernard G., 1993, GENEREVIEWS

[4] Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy [J].

Bernard, Genevieve ;

Chouery, Eliane ;

Putorti, Maria Lisa ;

Tetreault, Martine ;

Takanohashi, Asako ;

Carosso, Giovanni ;

Clement, Isabelle ;

Boespflug-Tanguy, Odile ;

Rodriguez, Diana ;

Delague, Valerie ;

Abou Ghoch, Joelle ;

Jalkh, Nadine ;

Dorboz, Imen ;

Fribourg, Sebastien ;

Teichmann, Martin ;

Megarbane, Andre ;

Schiffmann, Raphael ;

Vanderver, Adeline ;

Brais, Bernard .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (03) :415-423

[5] Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31 [J].

Bernard, Genevieve ;

Thiffault, Isabelle ;

Tetreault, Martine ;

Putorti, Maria Lisa ;

Bouchard, Isabelle ;

Sylvain, Michel ;

Melancon, Serge ;

Laframboise, Rachel ;

Langevin, Pierre ;

Bouchard, Jean-Pierre ;

Vanasse, Michel ;

Vanderver, Adeline ;

Sebire, Guillaume ;

Brais, Bernard .

NEUROGENETICS, 2010, 11 (04) :457-464

[6] A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22 [J].

Chouery, Eliane ;

Delague, Valerie ;

Jalkh, Nadine ;

Salem, Nabiha ;

Kfoury, Jessy ;

Rodriguez, Diana ;

Chabrol, Brigitte ;

Boespflug-Tanguy, Odile ;

Levy, Nicolas ;

Serre, Jean Louis ;

Megarbane, Andre .

NEUROGENETICS, 2011, 12 (01) :73-78

[7]

Galluzzi P, 2001, AM J NEURORADIOL, V22, P777

[8] Neuroimaging In Cockayne Syndrome [J].

Koob, M. ;

Laugel, V. ;

Durand, M. ;

Fothergill, H. ;

Dalloz, C. ;

Sauvanaud, F. ;

Dollfus, H. ;

Namer, I. J. ;

Dietemann, J. -L. .

AMERICAN JOURNAL OF NEURORADIOLOGY, 2010, 31 (09) :1623-1630

[9] MEASUREMENT OF OBSERVER AGREEMENT FOR CATEGORICAL DATA [J].

LANDIS, JR ;

KOCH, GG .

BIOMETRICS, 1977, 33 (01) :159-174

[10] Neurological manifestations of the oculodentodigital dysplasia syndrome [J].

Loddenkemper, T ;

Grote, K ;

Evers, S ;

Oelerich, M ;

Stögbauer, F .

JOURNAL OF NEUROLOGY, 2002, 249 (05) :584-595

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