Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and caucasian populations: 2 cases and literature review

Chih Hong Lee, Chin Song Lu, Wen Li Chuang, Tu Hsueh Yeh, Shih Ming Jung, Chia Ling Huang, Szu Chia Lai

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Objectives. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN. Methods. Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were divided into classic and atypical groups by the age of onset. We compared the data on PKAN patients of Asian and Caucasian populations. Results. We found iron deposits in the globus pallidus in our Patient 1 and a heterozygous truncating mutation (c.1408insT) in Patient 2. Literature review shows that generalized dystonia and bulbar signs are more common in classic PKAN patients, whereas segmental dystonia and tremors are more specific to atypical ones. Asian patients have less complex presentations - lower prevalence of pyramidal signs, mental impairment, and parkinsonism - than Caucasians. D378G in exon 3 is the most frequent mutation (28%) in Asians. Conclusions. Our study demonstrates that the distribution of dystonia is the major distinction between subgroups of PKAN. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.

Original languageEnglish
Article number860539
JournalThe Scientific World Journal
Volume2013
DOIs
Publication statusPublished - 2013
Externally publishedYes

Fingerprint

Pantothenate Kinase-Associated Neurodegeneration
literature review
phenotype
mutation
genotype
Genotype
Phenotype
Population
Dystonia
pathology
Mutation
Exons
Iron deposits
iron
pantothenate kinase
Pathology
Genetic Databases
Globus Pallidus
Clinical Pathology
Far East

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Environmental Science(all)

Cite this

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and caucasian populations : 2 cases and literature review. / Lee, Chih Hong; Lu, Chin Song; Chuang, Wen Li; Yeh, Tu Hsueh; Jung, Shih Ming; Huang, Chia Ling; Lai, Szu Chia.

In: The Scientific World Journal, Vol. 2013, 860539, 2013.

Research output: Contribution to journalArticle

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