Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 172-176 , 15 March 2010

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and 99mTc-ECD brain perfusion SPECT findings

  • Hiroshi Doi

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan
    • Corresponding Author InformationCorresponding author. Department of Clinical Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 234-0006, Japan. Tel.: +81 45 787 2725; fax: +81 45 788 6041.
    • ,
  • Shigeru Koyano

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Satoko Miyatake

      Affiliations

    • Department of Human Genetics, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Naomichi Matsumoto

      Affiliations

    • Department of Human Genetics, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Tomoaki Kameda

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Atsuko Tomita

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Yosuke Miyaji

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Yume Suzuki

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan
    • ,
  • Yukio Sawaishi

      Affiliations

    • Department of Pediatrics, Graduate School of Medicine, Akita University, Japan
    • ,
  • Yoshiyuki Kuroiwa

      Affiliations

    • Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University, Japan

Received 31 July 2009 ,Revised 22 October 2009 ,Accepted 17 November 2009.

References 

  1. Dooling EC, Schoene WC, Richardson EP. Hallervorden–Spatz syndrome. Arch Neurol. 1974 Jan;30(1):70–83
  2. Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden–Spatz syndrome). Eur J Paediatr Neurol. 2002;6(5):243–247
  3. Swaiman KF. Hallervorden–Spatz syndrome. Pediatr Neurol. 2001 Aug;25(2):102–108
  4. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden–Spatz syndrome. Nat Genet. 2001 Aug;28(4):345–349
  5. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, et al. Genetic, clinical, and radiographic delineation of Hallervorden–Spatz syndrome. N Engl J Med. 2003 Jan 2;348(1):33–40
  6. Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden–Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord. 2004 Jan;19(1):36–42
  7. Zhang YH, Tang BS, Zhao AL, Xia K, Long ZG, Guo JF, et al. Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. Mov Disord. 2005 Jul;20(7):819–821
  8. Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology. 2002 Jun 11;58(11):1673–1674
  9. Saleheen D, Ali T, Aly Z, Khealani B, Frossard PM. Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family. Pediatr Neurol. 2007 Oct;37(4):296–298
  10. Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojaczynska-Stanek K. A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication. J Child Neurol. 2007 Nov;22(11):1256–1259
  11. Rump P, Lemmink HH, Verschuuren-Bemelmans CC, Grootscholten PM, Fock JM, Hayflick SJ, et al. A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. Neurogenetics. 2005 Dec;6(4):201–207
  12. Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP. Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation. Hong Kong Med J. 2008 Feb;14(1):70–73
  13. Yamashita S, Maeda Y, Ohmori H, Uchida Y, Hirano T, Yonemura K, et al. Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. J Neurol Sci. 2004 Oct 15;225(1–2):129–133
  14. Vasconcelos OM, Harter DH, Duffy C, McDonough B, Seidman JG, Seidman CE, et al. Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis. Muscle Nerve. 2003 Jul;28(1):118–122
  15. Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden–Spatz syndromes are allelic. Neurology. 2003 Nov 25;61(10):1423–1426
  16. Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, et al. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology. 2005 May 24;64(10):1810–1812
  17. Antonini A, Goldwurm S, Benti R, Prokisch H, Ebhardt M, Cilia R, et al. Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration. Mov Disord. 2006 Mar;21(3):417–418
  18. Chung SJ, Lee JH, Lee MC, Yoo HW, Kim GH. Focal hand dystonia in a patient with PANK2 mutation. Mov Disord. 2008 Feb 15;23(3):466–468
  19. Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden–Spatz syndrome. Neuropediatrics. 2005 Jun;36(3):221–222
  20. Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ. Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation. Mov Disord. 2009 Apr 30;24(6):940–941
  21. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB, a Frontal Assessment Battery at bedside. Neurology. 2000 Dec 12;55(11):1621–1626
  22. Hashimoto R, Meguro K, Lee E, Kasai M, Ishii H, Yamaguchi S. Effect of age and education on the Trail Making Test and determination of normative data for Japanese elderly people: the Tajiri Project. Psychiatry Clin Neurosci. 2006 Aug;60(4):422–428
  23. Nelson HE. A modified card sorting test sensitive to frontal lobe defects. Cortex. 1976 Dec;12(4):313–324
  24. Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1230–1233
  25. Waragai M, Yamada T, Matsuda H. Evaluation of brain perfusion SPECT using an easy Z-score imaging system (eZIS) as an adjunct to early-diagnosis of neurodegenerative diseases. J Neurol Sci. 2007 Sep 15;260(1–2):57–64
  26. Matsuda H, Mizumura S, Nagao T, Ota T, Iizuka T, Nemoto K, et al. Automated discrimination between very early Alzheimer disease and controls using an easy Z-score imaging system for multicenter brain perfusion single-photon emission tomography. AJNR Am J Neuroradiol. 2007 Apr;28(4):731–736
  27. Ashendorf L, Jefferson AL, O'Connor MK, Chaisson C, Green RC, Stern RA. Trail Making Test errors in normal aging, mild cognitive impairment, and dementia. Arch Clin Neuropsychol. 2008 Mar;23(2):129–137
  28. Abe M, Suzuki K, Okada K, Miura R, Fujii T, Etsurou M, et al. [Normative data on tests for frontal lobe functions: Trail Making Test, Verbal fluency, Wisconsin Card Sorting Test (Keio version)]. No To Shinkei. 2004 Jul; 56(7):567–74.
  29. Kanazawa A, Mizuno Y, Narabayashi H. Executive function in Parkinson's disease. Rinsho Shinkeigaku. 2001 Apr–May;41(4–5):167–172
  30. Kobor J, Javaid A, Omojola MF. Cerebellar hypoperfusion in infantile neuroaxonal dystrophy. Pediatr Neurol. 2005 Feb;32(2):137–139
  31. Castelnau P, Zilbovicius M, Ribeiro MJ, Hertz-Pannier L, Ogier H, Evrard P. Striatal and pontocerebellar hypoperfusion in Hallervorden–Spatz syndrome. Pediatr Neurol. 2001 Aug;25(2):170–174
  32. Arawaka S, Saito Y, Murayama S, Mori H. Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein. Neurology. 1998 Sep;51(3):887–889
  33. Wakabayashi K, Yoshimoto M, Fukushima T, Koide R, Horikawa Y, Morita T, et al. Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden–Spatz disease with Lewy bodies. Neuropathol Appl Neurobiol. 1999 Oct;25(5):363–368
  34. Nakajima K, Yoshita M, Matsuo S, Taki J, Kinuya S. Iodine-123-MIBG sympathetic imaging in Lewy-body diseases and related movement disorders. Q J Nucl Med Mol Imaging. 2008 Dec;52(4):378–387
  35. Rock CO, Calder RB, Karim MA, Jackowski S. Pantothenate kinase regulation of the intracellular concentration of coenzyme A. J Biol Chem. 2000 Jan 14;275(2):1377–1383

PII: S0022-510X(09)00969-1

doi: 10.1016/j.jns.2009.11.008

Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 172-176 , 15 March 2010

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