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Article: Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome

TitleMagnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome
Authors
Issue Date2002
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/pedneu
Citation
Pediatric Neurology, 2002, v. 26 n. 3, p. 205-209 How to Cite?
AbstractWe studied the in vivo cerebral metabolites and documented the presence of MECP2 gene mutations in six Chinese females with Rett syndrome. Magnetic resonance spectroscopy spectra from the frontal lobe (gray and white matter) and deep gray nuclei (basal ganglia and thalamus) of either side were obtained. N-acetylaspartate/total creatine, choline/total creatine, and N-acetylaspartate/choline ratios were analyzed and compared with six healthy age-matched female control subjects. MECP2 gene mutation was identified in four patients; one patient had polymorphism and one patient did not have gene mutation. N-acetylaspartate/total creatine of the frontal lobe of all patients (mean: 2.63, S.D. = 0.33) was decreased compared with age-matched control subjects (mean: 3.15, S.D. = 0.27), and the difference was statistically significant (P = 0.017) with a mean difference of 0.52 (95% CI = 0.68-0.36). The difference in all other metabolite ratios in the frontal lobe and deep gray nuclei were not statistically significant compared with age-matched control subjects. Mild frontal lobe and anterior temporal lobe atrophy was present in three patients. Proton-magnetic resonance spectroscopy is a sensitive method capable of detecting the biochemical changes in Rett syndrome and is able to detect changes before conventional magnetic resonance imaging. Our preliminary results suggest that reduction in N-acetylaspartate/total creatine ratio may not be related to the MECP2 mutation. Copyright © 2002 Elsevier Science Inc.
Persistent Identifierhttp://hdl.handle.net/10722/72371
ISSN
2015 Impact Factor: 1.866
2015 SCImago Journal Rankings: 0.819
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKhong, PLen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorOoi, CGCen_HK
dc.contributor.authorKo, CHen_HK
dc.contributor.authorWong, VCNen_HK
dc.date.accessioned2010-09-06T06:41:02Z-
dc.date.available2010-09-06T06:41:02Z-
dc.date.issued2002en_HK
dc.identifier.citationPediatric Neurology, 2002, v. 26 n. 3, p. 205-209en_HK
dc.identifier.issn0887-8994en_HK
dc.identifier.urihttp://hdl.handle.net/10722/72371-
dc.description.abstractWe studied the in vivo cerebral metabolites and documented the presence of MECP2 gene mutations in six Chinese females with Rett syndrome. Magnetic resonance spectroscopy spectra from the frontal lobe (gray and white matter) and deep gray nuclei (basal ganglia and thalamus) of either side were obtained. N-acetylaspartate/total creatine, choline/total creatine, and N-acetylaspartate/choline ratios were analyzed and compared with six healthy age-matched female control subjects. MECP2 gene mutation was identified in four patients; one patient had polymorphism and one patient did not have gene mutation. N-acetylaspartate/total creatine of the frontal lobe of all patients (mean: 2.63, S.D. = 0.33) was decreased compared with age-matched control subjects (mean: 3.15, S.D. = 0.27), and the difference was statistically significant (P = 0.017) with a mean difference of 0.52 (95% CI = 0.68-0.36). The difference in all other metabolite ratios in the frontal lobe and deep gray nuclei were not statistically significant compared with age-matched control subjects. Mild frontal lobe and anterior temporal lobe atrophy was present in three patients. Proton-magnetic resonance spectroscopy is a sensitive method capable of detecting the biochemical changes in Rett syndrome and is able to detect changes before conventional magnetic resonance imaging. Our preliminary results suggest that reduction in N-acetylaspartate/total creatine ratio may not be related to the MECP2 mutation. Copyright © 2002 Elsevier Science Inc.en_HK
dc.languageengen_HK
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/pedneuen_HK
dc.relation.ispartofPediatric Neurologyen_HK
dc.rightsPediatric Neurology. Copyright © Elsevier Inc.en_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAdulten_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshChilden_HK
dc.subject.meshChild, Preschoolen_HK
dc.subject.meshChromosomal Proteins, Non-Histoneen_HK
dc.subject.meshDNA-Binding Proteins - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshFrontal Lobe - pathologyen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMagnetic Resonance Imagingen_HK
dc.subject.meshMagnetic Resonance Spectroscopy - diagnostic useen_HK
dc.subject.meshMethyl-CpG-Binding Protein 2en_HK
dc.subject.meshMutationen_HK
dc.subject.meshPeriaqueductal Gray - pathologyen_HK
dc.subject.meshPolymorphism, Geneticen_HK
dc.subject.meshRepressor Proteinsen_HK
dc.subject.meshRett Syndrome - diagnosis - geneticsen_HK
dc.titleMagnetic resonance spectroscopy and analysis of MECP2 in Rett syndromeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0887-8994&volume=26&issue=3&spage=205&epage=209&date=2002&atitle=Magnetic+Resonance+Spectroscopy+and+Analysis+of+MECP2+in+Rett+Syndromeen_HK
dc.identifier.emailKhong, PL:plkhong@hkucc.hku.hken_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.emailWong, VCN:vcnwong@hku.hken_HK
dc.identifier.authorityKhong, PL=rp00467en_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/S0887-8994(01)00385-Xen_HK
dc.identifier.pmid11955928-
dc.identifier.scopuseid_2-s2.0-0036216036en_HK
dc.identifier.hkuros65990en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036216036&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume26en_HK
dc.identifier.issue3en_HK
dc.identifier.spage205en_HK
dc.identifier.epage209en_HK
dc.identifier.isiWOS:000175077500006-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKhong, PL=7006693233en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridOoi, CGC=7007084909en_HK
dc.identifier.scopusauthoridKo, CH=23497325200en_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK

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