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Review
. 2013 Nov 19:2013:860539.
doi: 10.1155/2013/860539. eCollection 2013.

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

Chih-Hong Lee  1 , Chin-Song Lu  2 , Wen-Li Chuang  2 , Tu-Hsueh Yeh  2 , Shih-Ming Jung  3 , Chia-Ling Huang  4 , Szu-Chia Lai  2
Affiliations
Review

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

Chih-Hong Lee et al. ScientificWorldJournal. .

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.

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Figures

Figure 1
Figure 1
(a) The iron stain of the brain of our patient one showed diffuse granules with iron deposits in the globus pallidus. (b) Sequence chromatographs of exon 3 of PANK2 gene showed a heterozygous T insertion (c.1408insT) leading to a stop codon and therefore a truncation of the protein at position 350 (I349X).
Figure 2
Figure 2
(a) Surface electromyography recording on a distal part of the arm at rest showed alternating rhythmic bursts at a frequency of 5-6 Hz. (b) Surface electromyography recording on a proximal part of the arm during outstretching showed short-duration, large amplitude arrhythmic bursts, mostly due to synchronous activities.
Figure 3
Figure 3
Common mutations of PANK2 gene in Asians and Caucasians.
See this image and copyright information in PMC

References

    1. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Movement Disorders. 2012;27(1):42–53. - PubMed
    1. Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. Journal of Medical Genetics. 2009;46(2):73–80. - PMC - PubMed
    1. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. The New England Journal of Medicine. 2003;348(1):33–40. - PubMed
    1. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature Genetics. 2001;28(4):345–349. - PubMed
    1. Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Archives of Neurology. 1991;48(12):1285–1293. - PubMed

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