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International Journal of Neuroscience Volume 121, 2011 - Issue 4
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Research Article

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

Chloe Miu MakKowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, ChinaCorrespondencemailto:[email protected]
,
Bun ShengDepartment of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong SAR, China
,
Hencher Han-chih LeeKowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
,
Kwok-kwong LauDepartment of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong SAR, China
,
Wing-tak ChanKowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
,
Ching-wan LamDepartment of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
&
Yan-wo ChanKowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
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Pages 224-227 | Received 22 Sep 2011, Published online: 04 Jan 2011

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Fan Yang, Juan Wang, Ze Yang, Zhaorui Ren & Fanyi Zeng. (2022) PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family. International Journal of Neuroscience 132:6, pages 582-588.
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Si Pan & Chenkai Zhu. (2020) Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature. Neurocase 26:3, pages 175-182.
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Yuan Cheng, Yu-tao Liu, Zhi-hua Yang, Jing Yang, Chang-he Shi & Yu-ming Xu. (2018) Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. International Journal of Neuroscience 128:12, pages 1109-1113.
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Chloe Miu Mak, Han-Chih Hencher Lee, Albert Yan-Wo Chan & Ching-Wan Lam. (2013) Inborn errors of metabolism and expanded newborn screening: review and update. Critical Reviews in Clinical Laboratory Sciences 50:6, pages 142-162.
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Articles from other publishers (14)

Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song & Xiaoze Li. (2023) Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review. Frontiers in Neurology 14.
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Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang & Xiangjun Chen. (2023) Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD. Frontiers in Neurology 14.
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Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner & Thomas Klopstock. (2022) Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. eBioMedicine 77, pages 103869.
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Carlos Henrique Ferreira Camargo, Marcus Vinicius Della-Coletta, Delson José da Silva & Hélio A. G. Teive. 2021. Research Anthology on Diagnosing and Treating Neurocognitive Disorders. Research Anthology on Diagnosing and Treating Neurocognitive Disorders 387 410 .
Zhi-Bin Wang, Jun-Yan Liu, Xiao-Jing Xu, Xiao-Yuan Mao, Wei Zhang, Hong-Hao Zhou & Zhao-Qian Liu. (2019) Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation. Biomedicine & Pharmacotherapy 118, pages 109068.
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Carlos Henrique Ferreira Camargo, Marcus Vinicius Della-Coletta, Delson José da Silva & Hélio A. G. Teive. 2019. Handbook of Research on Critical Examinations of Neurodegenerative Disorders. Handbook of Research on Critical Examinations of Neurodegenerative Disorders 274 297 .
Yingying Zhang, Dong Zhou & Tianhua Yang. (2019) Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration. Medicine 98:4, pages e14122.
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Edward Botsford, Jayan George & Ellen Buckley. (2018) Parkinson’s Disease and Metal Storage Disorders: A Systematic Review. Brain Sciences 8:11, pages 194.
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Connie Marras, Anthony Lang, Bart P. van de Warrenburg, Carolyn M. Sue, Sarah J. Tabrizi, Lars Bertram, Saadet Mercimek-Mahmutoglu, Darius Ebrahimi-Fakhari, Thomas T. Warner, Alexandra Durr, Birgit Assmann, Katja Lohmann, Vladimir Kostic & Christine Klein. (2016) Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Movement Disorders 31:4, pages 436-457.
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L.-Y. Ma, L. Wang, Y.-M. Yang, Y. Lu, F.-B. Cheng & X.-H. Wan. (2015) Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. Clinical Genetics 87:1, pages 93-95.
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Susanne A. Schneider, Giovanna Zorzi & Nardo Nardocci. (2013) Pathophysiology and Treatment of Neurodegeneration With Brain Iron Accumulation in the Pediatric Population. Current Treatment Options in Neurology 15:5, pages 652-667.
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Susanne A. Schneider & Kailash P. Bhatia. (2012) Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). Journal of Neural Transmission 120:4, pages 695-703.
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Michael J. Keogh & Patrick F. Chinnery. (2012) Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation. Seminars in Pediatric Neurology 19:2, pages 51-56.
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Hyman M. Schipper. (2012) Neurodegeneration with brain iron accumulation — Clinical syndromes and neuroimaging. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1822:3, pages 350-360.
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