Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

被引：33

作者：

Deguchi, Kimiko ^{[1
,2
]}

Clewing, Johanna M. ^{[2
]}

Elizondo, Leah I. ^{[3
,4
]}

Hirano, Ryuki ^{[4
]}

Huang, Cheng ^{[2
]}

Choi, Kunho ^{[4
]}

Sloan, Emily A. ^{[2
]}

Luecke, Thomas ^{[5
]}

Marwedel, Katja M. ^{[6
]}

Powell, Ralph D., Jr. ^{[7
]}

Cruz, Karen Santa ^{[7
]}

Willaime-Morawek, Sandrine ^{[9
]}

Inoue, Ken ^{[10
]}

Lou, Shu ^{[2
]}

Northrop, Jennifer L. ^{[2
]}

Kanemura, Yonehiro ^{[11
]}

van der Kooy, Derek ^{[9
]}

Okano, Hideyuki ^{[8
]}

Armstrong, Dawna L. ^{[1
]}

Boerkoel, Cornelius F. ^{[4
]}

机构：

[1] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Interdepartmental Program Cell & Mol Biol, Houston, TX 77030 USA

[4] Univ British Columbia, Dept Med Genet, Ctr Mol Med & Therapeut, Child & Family Res Inst, Vancouver, BC, Canada

[5] Hannover Med Sch, Dept Pediat, D-3000 Hannover, Germany

[6] Hannover Med Sch, Dept Pathol, D-3000 Hannover, Germany

[7] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[8] Keio Univ, Sch Med, Dept Physiol, Tokyo 160, Japan

[9] Univ Toronto, Dept Med Genet & Microbiol, Toronto, ON M5S 1A1, Canada

[10] Natl Ctr Neurol & Psychiat, Donnelly Ctr Cellular, Dept Mental Retardat & Birth Defect Res, Natl Inst Neurosci, Tokyo, Japan

[11] Natl Hosp Org, Osaka Natl Hosp, Inst Clin Res, Osaka, Japan

来源：

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 2008年 / 67卷 / 06期

关键词：

immunodeficiency; microcephaly; neural stem cell; neuronal migration; renal disease; skeletal dysplasia;

D O I：

10.1097/NEN.0b013e3181772777

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon auto- somal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a putative chromatin remodeling protein. Neurologic manifestations identified to date relate to enhanced atherosclerosis and cerebrovascular' disease. Based on a clinical survey, we determined that half of Schimke immuno-osseous dysplasia patients have a small head circumference, and 15% have social, language, motor, or cognitive abnormalities. Postmortem examination of 2 Schimke immuno-osseous dysplasia patients showed low brain weights and subtle brain histologic abnormalities suggestive of perturbed neuron-glial migration such as heterotopia, irregular cortical thickness, incomplete gyral formation, and poor definition of cortical layers. We found that SMARCAL1 is highly expressed in the developing and adult mouse and human brain, including neural precursors and neuronal lineage cells. These observations suggest that SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation.

引用

页码：565 / 577

页数：13

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