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Article: Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome

TitleYoung-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome
Authors
Issue Date2011
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00207454.asp
Citation
International Journal Of Neuroscience, 2011, v. 121 n. 4, p. 224-227 How to Cite?
AbstractNeurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of disorders varied in genetic etiologies, clinical presentations, and radiological features. NBIA is an iron homeostasis disorder with progressive iron accumulation in the central nervous systems and is clinically characterized by extrapyramidal movement abnormalities, retinal pigmentary changes, and cognitive impairment. Panthothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease) is the commonest disorder of NBIA with a prevalence of one-three per million. Clinically, it is classified into early-onset childhood, atypical late-onset, and adult-onset type. Adult-onset type is rarer. We report the first case of adult-onset panthothenate kinase-associated neurodegeneration in Hong Kong in a 28-year-old Chinese man who presented with pure young-onset parkinsonism. Magnetic resonance imaging (MRI) of the brain showed the presence of eye-of-the-tiger sign. Two compound heterozygous mutations PANK2 NM-153638.2: c.445G > T; NP-705902.2: p.E149X and PANK2 NM-153638.2: c.1133A > G; NP-705902.2: p.D378G were detected. Parkinsonism per se is a very heterogeneous phenotypic group. In view of the readily available genetic analysis of PANK2, panthothenate kinase-associated neurodegeneration should be considered in adult patients with young-onset parkinsonism with or without the eye-of-the-tiger sign. The exact diagnosis offers a different management approach and genetic counseling. NBIA is likely under- or misdiagnosed in Hong Kong Chinese. © 2011 Informa Healthcare USA, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/139927
ISSN
2014 Impact Factor: 1.521
2014 SCImago Journal Rankings: 0.553
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorSheng, Ben_HK
dc.contributor.authorLee, HHCen_HK
dc.contributor.authorLau, KKen_HK
dc.contributor.authorChan, WTen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorChan, YWen_HK
dc.date.accessioned2011-09-23T06:01:39Z-
dc.date.available2011-09-23T06:01:39Z-
dc.date.issued2011en_HK
dc.identifier.citationInternational Journal Of Neuroscience, 2011, v. 121 n. 4, p. 224-227en_HK
dc.identifier.issn0020-7454en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139927-
dc.description.abstractNeurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of disorders varied in genetic etiologies, clinical presentations, and radiological features. NBIA is an iron homeostasis disorder with progressive iron accumulation in the central nervous systems and is clinically characterized by extrapyramidal movement abnormalities, retinal pigmentary changes, and cognitive impairment. Panthothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease) is the commonest disorder of NBIA with a prevalence of one-three per million. Clinically, it is classified into early-onset childhood, atypical late-onset, and adult-onset type. Adult-onset type is rarer. We report the first case of adult-onset panthothenate kinase-associated neurodegeneration in Hong Kong in a 28-year-old Chinese man who presented with pure young-onset parkinsonism. Magnetic resonance imaging (MRI) of the brain showed the presence of eye-of-the-tiger sign. Two compound heterozygous mutations PANK2 NM-153638.2: c.445G > T; NP-705902.2: p.E149X and PANK2 NM-153638.2: c.1133A > G; NP-705902.2: p.D378G were detected. Parkinsonism per se is a very heterogeneous phenotypic group. In view of the readily available genetic analysis of PANK2, panthothenate kinase-associated neurodegeneration should be considered in adult patients with young-onset parkinsonism with or without the eye-of-the-tiger sign. The exact diagnosis offers a different management approach and genetic counseling. NBIA is likely under- or misdiagnosed in Hong Kong Chinese. © 2011 Informa Healthcare USA, Inc.en_HK
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00207454.aspen_HK
dc.relation.ispartofInternational Journal of Neuroscienceen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAsian Continental Ancestry Group - ethnology - geneticsen_HK
dc.subject.meshGenetic Predisposition to Disease - ethnology - geneticsen_HK
dc.subject.meshHong Kong - ethnologyen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshPantothenate Kinase-Associated Neurodegeneration - diagnosis - ethnologyen_HK
dc.subject.meshParkinsonian Disorders - diagnosis - ethnologyen_HK
dc.subject.meshPhenotypeen_HK
dc.subject.meshPhosphotransferases (Alcohol Group Acceptor) - geneticsen_HK
dc.titleYoung-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndromeen_HK
dc.typeArticleen_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.3109/00207454.2010.542843en_HK
dc.identifier.pmid21198414en_HK
dc.identifier.scopuseid_2-s2.0-79951926412en_HK
dc.identifier.hkuros192462en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79951926412&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume121en_HK
dc.identifier.issue4en_HK
dc.identifier.spage224en_HK
dc.identifier.epage227en_HK
dc.identifier.isiWOS:000289033700009-
dc.publisher.placeUnited Kingdomen_HK

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