Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Research Abstract Details 

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Abstract Text:

Shelli R Kesler,Richard J Simensen,Kytja Voeller,Fatima Abidi,Roger E Stevenson,Charles E Schwartz,Allan L Reiss,Shelli R Kesler,Richard J Simensen,Kytja Voeller,Fatima Abidi,Roger E Stevenson,Charles E Schwartz,Allan L Reiss,Shelli R Kesler,Richard J Simensen,Kytja Voeller,Fatima Abidi,Roger E Stevenson,Charles E Schwartz,Allan L Reiss,

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.

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Publishing Authors By Initials

SR Kesler,RJ Simensen,K Voeller,F Abidi,RE Stevenson,CE Schwartz,AL Reiss,SR Kesler,RJ Simensen,K Voeller,F Abidi,RE Stevenson,CE Schwartz,AL Reiss,SR Kesler,RJ Simensen,K Voeller,F Abidi,RE Stevenson,CE Schwartz,AL Reiss,

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neurogenetics

VOLUME: 8

Page Numbers: 143-7

Journal Abbreviation: Neurogenetics

ISSN: 1364-6745

DAY: 22

MONTH: 02

YEAR: 2007

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 9709714

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AFFILIATION: Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA, 94305-5795, USA, skesler@stanford.edu.

Country: United States

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MEDLINETA: Neurogenetics

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