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Article: A Rett syndrome MECP2 mutation that causes mental retardation in men

TitleA Rett syndrome MECP2 mutation that causes mental retardation in men
Authors
Issue Date2002
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2002, v. 58 n. 2, p. 226-230 How to Cite?
AbstractObjective: To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family. Background: MECP2 mutations, originally described in a high percentage of patients with classic Rett syndrome, were considered lethal in men. The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. Methods: The neurologic features of six symptomatic relatives (two women and four men) carrying the mutation were compiled. Laboratory investigations included EEG, EMG, conduction velocity (CV) of peripheral nerves, brain MRI, and 1H-MR spectroscopy. Results: Mental retardation and signs of neurologic impairment were present in all the affected members, but more pronounced in men. Neurologic features included slowly progressive spastic paraparesis/pyramidal signs (6/6), distal atrophy of the legs (6/6), ataxia (2/6), and postural tremor of the hands (3/6). Speech was preserved (6/6) but was dysarthric in the oldest brothers (2/6). Mild dysmorphic features were present in all cases. Conclusion: The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but they are more severely affected than women of the same family.
Persistent Identifierhttp://hdl.handle.net/10722/148313
ISSN
2015 Impact Factor: 8.166
2015 SCImago Journal Rankings: 3.691
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDotti, MTen_US
dc.contributor.authorOrrico, Aen_US
dc.contributor.authorDe Stefano, Nen_US
dc.contributor.authorBattisti, Cen_US
dc.contributor.authorSicurelli, Fen_US
dc.contributor.authorSeveri, Sen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorGalli, Len_US
dc.contributor.authorSorrentino, Ven_US
dc.contributor.authorFederico, Aen_US
dc.date.accessioned2012-05-29T06:12:09Z-
dc.date.available2012-05-29T06:12:09Z-
dc.date.issued2002en_US
dc.identifier.citationNeurology, 2002, v. 58 n. 2, p. 226-230en_US
dc.identifier.issn0028-3878en_US
dc.identifier.urihttp://hdl.handle.net/10722/148313-
dc.description.abstractObjective: To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family. Background: MECP2 mutations, originally described in a high percentage of patients with classic Rett syndrome, were considered lethal in men. The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. Methods: The neurologic features of six symptomatic relatives (two women and four men) carrying the mutation were compiled. Laboratory investigations included EEG, EMG, conduction velocity (CV) of peripheral nerves, brain MRI, and 1H-MR spectroscopy. Results: Mental retardation and signs of neurologic impairment were present in all the affected members, but more pronounced in men. Neurologic features included slowly progressive spastic paraparesis/pyramidal signs (6/6), distal atrophy of the legs (6/6), ataxia (2/6), and postural tremor of the hands (3/6). Speech was preserved (6/6) but was dysarthric in the oldest brothers (2/6). Mild dysmorphic features were present in all cases. Conclusion: The neurologic disorder associated with A140V MECP2 mutation is not necessarily lethal in men, but they are more severely affected than women of the same family.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_US
dc.relation.ispartofNeurologyen_US
dc.subject.meshAdulten_US
dc.subject.meshChromosomal Proteins, Non-Histoneen_US
dc.subject.meshDna-Binding Proteins - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIntellectual Disability - Genetics - Physiopathologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMethyl-Cpg-Binding Protein 2en_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRepressor Proteinsen_US
dc.subject.meshRett Syndrome - Genetics - Physiopathologyen_US
dc.titleA Rett syndrome MECP2 mutation that causes mental retardation in menen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid11805248-
dc.identifier.scopuseid_2-s2.0-0037154144en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037154144&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume58en_US
dc.identifier.issue2en_US
dc.identifier.spage226en_US
dc.identifier.epage230en_US
dc.identifier.isiWOS:000173360900010-
dc.publisher.placeUnited Statesen_US

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