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Article: Megalencephalic leukoencephalopathy with cysts without MLC1 defect two phenotypes

TitleMegalencephalic leukoencephalopathy with cysts without MLC1 defect two phenotypes
Authors
Van Der Knaap, MSLai, VKöhler, WSalih, MAFonseca, MJBenke, TAWilson, CJayakar, PAine, MRDom, LLynch, BKálmánchey, RPietsch, PErrami, AScheper, GC
Issue Date2010
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/76507645
Citation
Annals Of Neurology, 2010, v. 67 n. 6, p. 834-837 How to Cite?
DOI: http://dx.doi.org/10.1002/ana.21980
AbstractMegalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype.
Persistent Identifierhttp://hdl.handle.net/10722/144251
ISSN
0364-5134
2021 Impact Factor: 11.274
2020 SCImago Journal Rankings: 4.764
ISI Accession Number ID
WOS:000278208400020
Funding AgencyGrant Number
Dutch Organization for Scientific Research9120.6002
15E07.30
2009[2]-14
Optimix Foundation for Scientific Research
Funding Information:

This study was supported by the Dutch Organization for Scientific Research (grant 9120.6002, de Hersenstichting (grants 15E07.30 and 2009[2]-14) to M.S.v.d.K. and G.C.S.), and the Optimix Foundation for Scientific Research to M.S.v.d.K. and G.C.S.

References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorVan Der Knaap, MSen_HK
dc.contributor.authorLai, Ven_HK
dc.contributor.authorKöhler, Wen_HK
dc.contributor.authorSalih, MAen_HK
dc.contributor.authorFonseca, MJen_HK
dc.contributor.authorBenke, TAen_HK
dc.contributor.authorWilson, Cen_HK
dc.contributor.authorJayakar, Pen_HK
dc.contributor.authorAine, MRen_HK
dc.contributor.authorDom, Len_HK
dc.contributor.authorLynch, Ben_HK
dc.contributor.authorKálmánchey, Ren_HK
dc.contributor.authorPietsch, Pen_HK
dc.contributor.authorErrami, Aen_HK
dc.contributor.authorScheper, GCen_HK
dc.date.accessioned2012-01-20T01:43:36Z-
dc.date.available2012-01-20T01:43:36Z-
dc.date.issued2010en_HK
dc.identifier.citationAnnals Of Neurology, 2010, v. 67 n. 6, p. 834-837en_HK
dc.identifier.issn0364-5134en_HK
dc.identifier.urihttp://hdl.handle.net/10722/144251-
dc.description.abstractMegalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype.en_HK
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/76507645en_HK
dc.relation.ispartofAnnals of Neurologyen_HK
dc.rightsAnnals of Neurology. Copyright © John Wiley & Sons, Inc.-
dc.subject.meshBrain Diseases - complications - pathology-
dc.subject.meshCysts - complications - genetics-
dc.subject.meshLeukoencephalopathies - complications - genetics - pathology-
dc.subject.meshMembrane Proteins - genetics-
dc.subject.meshMutation - genetics-
dc.titleMegalencephalic leukoencephalopathy with cysts without MLC1 defect two phenotypesen_HK
dc.typeArticleen_HK
dc.identifier.emailLai, V:laiv@hku.hken_HK
dc.identifier.authorityLai, V=rp01516en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ana.21980en_HK
dc.identifier.pmid20517947-
dc.identifier.scopuseid_2-s2.0-77952920586en_HK
dc.identifier.hkuros197948-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77952920586&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume67en_HK
dc.identifier.issue6en_HK
dc.identifier.spage834en_HK
dc.identifier.epage837en_HK
dc.identifier.eissn1531-8249-
dc.identifier.isiWOS:000278208400020-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridVan Der Knaap, MS=7006627134en_HK
dc.identifier.scopusauthoridLai, V=15829844300en_HK
dc.identifier.scopusauthoridKöhler, W=7102242469en_HK
dc.identifier.scopusauthoridSalih, MA=35480857000en_HK
dc.identifier.scopusauthoridFonseca, MJ=7101806146en_HK
dc.identifier.scopusauthoridBenke, TA=7005038976en_HK
dc.identifier.scopusauthoridWilson, C=7404896780en_HK
dc.identifier.scopusauthoridJayakar, P=7006281785en_HK
dc.identifier.scopusauthoridAine, MR=6507934232en_HK
dc.identifier.scopusauthoridDom, L=6602390979en_HK
dc.identifier.scopusauthoridLynch, B=35476642600en_HK
dc.identifier.scopusauthoridKálmánchey, R=6701629288en_HK
dc.identifier.scopusauthoridPietsch, P=36151097100en_HK
dc.identifier.scopusauthoridErrami, A=23972414500en_HK
dc.identifier.scopusauthoridScheper, GC=6701739009en_HK
dc.identifier.issnl0364-5134-

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