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
2011 Impact Factor: 0.967
2011 SCImago Journal Rankings: 0.075
DOIhttp://dx.doi.org/10.3109/00207454.2010.542843
ISI Accession Number IDWOS:000289033700009
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 0.967
2011 SCImago Journal Rankings: 0.075
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
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Princess Margaret Hospital Hong Kong