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Article: Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome
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TitleYoung-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome
 
AuthorsMak, CM2
Sheng, B2
Lee, HHC2
Lau, KK2
Chan, WT2
Lam, CW1
Chan, YW2
 
Issue Date2011
 
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00207454.asp
 
CitationInternational Journal Of Neuroscience, 2011, v. 121 n. 4, p. 224-227 [How to Cite?]
DOI: http://dx.doi.org/10.3109/00207454.2010.542843
 
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.
 
ISSN0020-7454
2012 Impact Factor: 1.216
2012 SCImago Journal Rankings: 0.414
 
DOIhttp://dx.doi.org/10.3109/00207454.2010.542843
 
ISI Accession Number IDWOS:000289033700009
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorMak, CM
 
dc.contributor.authorSheng, B
 
dc.contributor.authorLee, HHC
 
dc.contributor.authorLau, KK
 
dc.contributor.authorChan, WT
 
dc.contributor.authorLam, CW
 
dc.contributor.authorChan, YW
 
dc.date.accessioned2011-09-23T06:01:39Z
 
dc.date.available2011-09-23T06:01:39Z
 
dc.date.issued2011
 
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.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationInternational Journal Of Neuroscience, 2011, v. 121 n. 4, p. 224-227 [How to Cite?]
DOI: http://dx.doi.org/10.3109/00207454.2010.542843
 
dc.identifier.doihttp://dx.doi.org/10.3109/00207454.2010.542843
 
dc.identifier.epage227
 
dc.identifier.hkuros192462
 
dc.identifier.isiWOS:000289033700009
 
dc.identifier.issn0020-7454
2012 Impact Factor: 1.216
2012 SCImago Journal Rankings: 0.414
 
dc.identifier.issue4
 
dc.identifier.pmid21198414
 
dc.identifier.scopuseid_2-s2.0-79951926412
 
dc.identifier.spage224
 
dc.identifier.urihttp://hdl.handle.net/10722/139927
 
dc.identifier.volume121
 
dc.languageeng
 
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00207454.asp
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofInternational Journal of Neuroscience
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdult
 
dc.subject.meshAsian Continental Ancestry Group - ethnology - genetics
 
dc.subject.meshGenetic Predisposition to Disease - ethnology - genetics
 
dc.subject.meshHong Kong - ethnology
 
dc.subject.meshHumans
 
dc.subject.meshMale
 
dc.subject.meshMutation - genetics
 
dc.subject.meshPantothenate Kinase-Associated Neurodegeneration - diagnosis - ethnology
 
dc.subject.meshParkinsonian Disorders - diagnosis - ethnology
 
dc.subject.meshPhenotype
 
dc.subject.meshPhosphotransferases (Alcohol Group Acceptor) - genetics
 
dc.titleYoung-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome
 
dc.typeArticle
 
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<contributor.author>Chan, WT</contributor.author>
<contributor.author>Lam, CW</contributor.author>
<contributor.author>Chan, YW</contributor.author>
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<description.abstract>Neurodegeneration 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 &gt; T; NP-705902.2: p.E149X and PANK2 NM-153638.2: c.1133A &gt; 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. &#169; 2011 Informa Healthcare USA, Inc.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Princess Margaret Hospital Hong Kong