与RSK2突变相关的神经发育改变：科芬-洛里综合征的形态学MRI研究
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.
作者信息
Kesler Shelli R, Simensen Richard J, Voeller Kytja, Abidi Fatima, Stevenson Roger E, Schwartz Charles E, Reiss Allan L
机构信息
Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA 94305-5795, USA.
出版信息
Neurogenetics. 2007 Apr;8(2):143-7. doi: 10.1007/s10048-007-0080-6. Epub 2007 Feb 22.
Abstract
Coffin-Lowry syndrome (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with cognitive impairment and skeletal malformations. We conducted the first morphometric study of CLS brain morphology by comparing brain volumes from two CLS families with healthy controls. Individuals with CLS consistently showed markedly reduced total brain volume. Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations. We provide preliminary evidence that the magnitude of hippocampus volume deviation from that of controls may predict general cognitive outcome in CLS.
摘要
科芬-洛里综合征（CLS）是一种由RSK2基因突变引起的罕见的X连锁智力障碍疾病，与认知障碍和骨骼畸形有关。我们通过比较两个CLS家族与健康对照者的脑容量，首次对CLS的脑形态进行了形态计量学研究。CLS患者的全脑体积始终显著减小。小脑和海马体体积尤其受到CLS的影响，可能与家族间特定的RSK2突变有关。我们提供了初步证据，表明海马体体积与对照组相比的偏差程度可能预测CLS患者的总体认知结果。
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