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Article: Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation

TitleClinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation
Authors
KeywordsCNTF
Familial amyotrophic lateral sclerosis
Mutations
SOD1
VEGF
Issue Date2006
PublisherInforma Healthcare.
Citation
Amyotrophic Lateral Sclerosis, 2006, v. 7 n. 3, p. 142-149 How to Cite?
AbstractAbout 10% of amyotrophic lateral sclerosis (ALS) cases are familial. We identified a five-generation Chinese family with autosomal dominant familial ALS (FALS). We performed a detailed family study, clinical and electromyographic validation, and SOD1, VEGF and CNTF mutation analyses. Forty-five living members (16 affected) were studied and DNA samples collected. Genealogical data were collected for deceased members. Based on the duration between symptom onset to ventilator dependence, they were divided into rapidly progressive (range 1-18 months, mean (SD) duration = 12.08 (± 6.10) months, mean (SD) age of symptom onset = 39.75 (± 9.84) years) and slowly progressive groups (>18 months; mean (SD) age of onset = 37.25 (± 5.32) years old). We identified a heterozygous mutation of ATT to ACT of SOD1 gene at codon 149 in exon 5 resulting in substitution of isoleucine to threonine. It co-segregated with all affected members and 11 non-symptomatic members. We report a large multigenerational Chinese FALS kindred with I149T mutation in SOD1. No polymorphisms or mutations were found to date in two known modifier genes, namely, VEGF and CNTF, which were associated with heterogeneity in the phenotype within this kindred. Follow-up of the family will be helpful to explore any potential disease markers.
Persistent Identifierhttp://hdl.handle.net/10722/68222
ISSN
2012 Impact Factor: 2.369
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFong, GCYen_HK
dc.contributor.authorKwok, KHHen_HK
dc.contributor.authorSong, YQen_HK
dc.contributor.authorCheng, TSen_HK
dc.contributor.authorHo, PWLen_HK
dc.contributor.authorChu, ACYen_HK
dc.contributor.authorKung, MHWen_HK
dc.contributor.authorChan, KHen_HK
dc.contributor.authorMak, Wen_HK
dc.contributor.authorCheung, RTFen_HK
dc.contributor.authorRamsden, DBen_HK
dc.contributor.authorHo, SLen_HK
dc.date.accessioned2010-09-06T06:02:31Z-
dc.date.available2010-09-06T06:02:31Z-
dc.date.issued2006en_HK
dc.identifier.citationAmyotrophic Lateral Sclerosis, 2006, v. 7 n. 3, p. 142-149en_HK
dc.identifier.issn1748-2968en_HK
dc.identifier.urihttp://hdl.handle.net/10722/68222-
dc.description.abstractAbout 10% of amyotrophic lateral sclerosis (ALS) cases are familial. We identified a five-generation Chinese family with autosomal dominant familial ALS (FALS). We performed a detailed family study, clinical and electromyographic validation, and SOD1, VEGF and CNTF mutation analyses. Forty-five living members (16 affected) were studied and DNA samples collected. Genealogical data were collected for deceased members. Based on the duration between symptom onset to ventilator dependence, they were divided into rapidly progressive (range 1-18 months, mean (SD) duration = 12.08 (± 6.10) months, mean (SD) age of symptom onset = 39.75 (± 9.84) years) and slowly progressive groups (>18 months; mean (SD) age of onset = 37.25 (± 5.32) years old). We identified a heterozygous mutation of ATT to ACT of SOD1 gene at codon 149 in exon 5 resulting in substitution of isoleucine to threonine. It co-segregated with all affected members and 11 non-symptomatic members. We report a large multigenerational Chinese FALS kindred with I149T mutation in SOD1. No polymorphisms or mutations were found to date in two known modifier genes, namely, VEGF and CNTF, which were associated with heterogeneity in the phenotype within this kindred. Follow-up of the family will be helpful to explore any potential disease markers.en_HK
dc.languageengen_HK
dc.publisherInforma Healthcare.en_HK
dc.relation.ispartofAmyotrophic Lateral Sclerosisen_HK
dc.rightsAmyotrophic Lateral Sclerosis. Copyright © Informa Healthcare.en_HK
dc.subjectCNTFen_HK
dc.subjectFamilial amyotrophic lateral sclerosisen_HK
dc.subjectMutationsen_HK
dc.subjectSOD1en_HK
dc.subjectVEGFen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAmyotrophic Lateral Sclerosis - geneticsen_HK
dc.subject.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshCiliary Neurotrophic Factor - geneticsen_HK
dc.subject.meshDNA Mutational Analysis - methodsen_HK
dc.subject.meshExons - geneticsen_HK
dc.subject.meshFamily Healthen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIsoleucine - geneticsen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshPedigreeen_HK
dc.subject.meshPhenotypeen_HK
dc.subject.meshReverse Transcriptase Polymerase Chain Reaction - methodsen_HK
dc.subject.meshSuperoxide Dismutase - geneticsen_HK
dc.subject.meshThreonine - geneticsen_HK
dc.subject.meshVascular Endothelial Growth Factor A - geneticsen_HK
dc.titleClinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1748-2968&volume=7&issue=3&spage=142&epage=149&date=2006&atitle=Clinical+phenotypes+of+a+large+Chinese+multigenerational+kindred+with+autosomal+dominant+familial+ALS+due+to+Ile149Thr+SOD1+gene+mutation.en_HK
dc.identifier.emailSong, YQ: songy@hku.hken_HK
dc.identifier.emailHo, PWL: hwl2002@hku.hken_HK
dc.identifier.emailChu, ACY: bcccy@hkucc.hku.hken_HK
dc.identifier.emailCheung, RTF: rtcheung@hku.hken_HK
dc.identifier.emailHo, SL: slho@hku.hken_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.identifier.authorityHo, PWL=rp00259en_HK
dc.identifier.authorityChu, ACY=rp00505en_HK
dc.identifier.authorityCheung, RTF=rp00434en_HK
dc.identifier.authorityHo, SL=rp00240en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1080/17482960600732412en_HK
dc.identifier.pmid16963403en_HK
dc.identifier.scopuseid_2-s2.0-33750434859en_HK
dc.identifier.hkuros129694en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750434859&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume7en_HK
dc.identifier.issue3en_HK
dc.identifier.spage142en_HK
dc.identifier.epage149en_HK
dc.identifier.isiWOS:000241153900003-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridFong, GCY=7004978754en_HK
dc.identifier.scopusauthoridKwok, KHH=7102194193en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridCheng, TS=7404082613en_HK
dc.identifier.scopusauthoridHo, PWL=25027612100en_HK
dc.identifier.scopusauthoridChu, ACY=24343085700en_HK
dc.identifier.scopusauthoridKung, MHW=36336960300en_HK
dc.identifier.scopusauthoridChan, KH=7406034963en_HK
dc.identifier.scopusauthoridMak, W=22948344000en_HK
dc.identifier.scopusauthoridCheung, RTF=7202397498en_HK
dc.identifier.scopusauthoridRamsden, DB=7102612805en_HK
dc.identifier.scopusauthoridHo, SL=25959633500en_HK

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